Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted ma...Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health issues.The purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of HCs.Additionally,we aimed to investigate the mental health status of HCs in China.Methods:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this study.Long distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or F9.Coagulation factor activity was detected by a one-stage clotting assay.The Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental health.Results:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,respectively.The median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding phenotype.The total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and severe.The pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations in hemophilia mothers was 90.6%,with a median clotting factor level of 0.74 IU/mL,and 14.3%of HCs had a clotting factor level of 0.40 IU/mL or below.A history of bleeding was present in 41.2%of HCs with low clotting factor levels(less than 0.50 IU/mL).Additionally,given the fragile mental health status of HCs in China,it is critical to develop efficient strategies to improve psychological well-being.展开更多
BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated w...BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must improve.CASE SUMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 days.CONCLUSION AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.展开更多
Introduction and objective: Hemophilia is a genetic bleeding disorder inherited as a recessive train linked to the male gender. Bleeding into the central nervous system in patients with hemophilia is an extremely dang...Introduction and objective: Hemophilia is a genetic bleeding disorder inherited as a recessive train linked to the male gender. Bleeding into the central nervous system in patients with hemophilia is an extremely dangerous condition that can be directly life-threatening, if left untreated. Extradural hematoma of the dorso-lumbar region is rare but potentially deadly disease in children. This condition can result in severe neurological deficits. We aim to discuss the clinical, radiological and progressive clinical aspects of this illness. Case report: We report the case of a 5-year-old child with severe hemophilia A treated for extradural hematoma of the dorso-lumbar region resulting from trauma. A spinal magnetic resonance imaging revealed an extradural hematoma. The patient was successfully treated with intensive replacement therapy and did not require surgical intervention. Conclusion: Extradural hematoma is a rare complication of hemophilia, that needs to be looked for in children who have bleeding disorders. For the best neurological outcome, early diagnosis is crucial.展开更多
BACKGROUND Hemophilia A is a rare inherited bleeding disorder caused by mutations in the factor Ⅷ gene. This clotting factor plays an intrinsic role in the blood coagulation pathway. Patients with hemophilia may deve...BACKGROUND Hemophilia A is a rare inherited bleeding disorder caused by mutations in the factor Ⅷ gene. This clotting factor plays an intrinsic role in the blood coagulation pathway. Patients with hemophilia may develop orthopedic manifestations such as hemarthrosis, but multiple malunion of fractures over the knee is rare and difficult to treat.CASE SUMMARY We report a patient with hemophilia A who developed severe knee osteoarthritis along with fracture malunion and nonunion. Total knee replacement was performed using a custom-made modular hinged knee prosthesis(cemented) equipped with extended distal and proximal stems. At 3 years’ follow-up, the patient exhibited excellent clinical function and remained satisfied with the surgical outcome. Surgical intervention was accompanied by rigorous coagulation factor replacement.CONCLUSION This case highlights various unique scenarios specific to individuals with hemophilia and fracture deformity.展开更多
BACKGROUND Hemophilia, an uncommon yet consequential hereditary bleeding disorder, manifests as two clinically indistinguishable forms that hinder the normal functioning of the coagulation cascade. This impairment ren...BACKGROUND Hemophilia, an uncommon yet consequential hereditary bleeding disorder, manifests as two clinically indistinguishable forms that hinder the normal functioning of the coagulation cascade. This impairment renders individuals more susceptible to excessive bleeding during significant surgical interventions. Moreover, individuals with severe hemophilia frequently encounter recurring hemarthrosis, resulting in progressive joint destruction and, subsequently, the need for hip and knee replacement surgeries.CASE SUMMARY The patient was a 53-year-old man with hemophilia A as the underlying disease and had self-injected factor Ⅷ twice weekly for several decades. He had undergone ankle fusion surgery for recurrent hemarthrosis at the Department of Orthopedic Surgery 1 mo prior and was referred to our department because of skin necrosis after a hematoma at the surgical site. An anterolateral thigh perforator free flap was created after three cycles of factor Ⅷ administration in addition to the concomitant administration of tranexamic acid(TXA)(Transamin 250 mg cap, 1 cap tid, q8h). After the operation, from postoperative days(PODs) 1-5, the factor Ⅷ dose and interval were maintained, and q12h administration was tapered to q24h administration after POD 6. Because the patient’s flap was stable 12 d after the operation, factor Ⅷ administration was tapered to twice a week. At 6 mo follow-up, the patient recovered well without any complications.CONCLUSION To the best of our knowledge, there are very few reports of successful free flaps in patients with hemophilia, and none have been reported in patients with hemophilia A. Moreover, there are several reports on the efficacy of TXA in free flaps in general patients;however, there are no case reports of combining factor Ⅷ and TXA in patients with hemophilia. Therefore, we report this case to contribute to future academic research.展开更多
Background: In Africa, hemophilia is underdiagnosed and carriers have long been considered free from bleeding symptoms. However, recent research has begun to reveal hemostatic abnormalities and bleeding manifestations...Background: In Africa, hemophilia is underdiagnosed and carriers have long been considered free from bleeding symptoms. However, recent research has begun to reveal hemostatic abnormalities and bleeding manifestations in carriers of hemophilia A, particularly due to excessive inactivation of normal X chromosomes. Objective: To describe the bleeding symptoms and hemostatic abnormalities in carriers of hemophilia A (HA) in Benin. Methods: This study was conducted as a prospective cross-sectional investigation between April 2021 to March 2022. The study population consisted of identified through pedigrees of persons with hemophilia A being treated in various hospitals in Benin. Data were collected through interviews conducted by trained physician and each carrier underwent a biological workup. Results: A total of 71 hemophilia A carriers were included and 38 of whom were obligatory carriers. Thirty-one carriers (43.7%) reported abnormal bleeding symptoms. Menorrhagia has (71%) being the most important manifestation, followed by bleeding during or after childbirth (45.2%). Among the 71 carriers, 45 were of reproductive age. Of whom 22 (48.8%) had a Higham score exceeding 100. Activated partial thromboplastin time was prolonged in 7 carriers (9.9%). The mean activity factor VIII:C (FVIII:C) levels were 68.8 ± 34.9 IU/dL. The average FVIII:C level in obligatory carriers was 56.9% and among potential carriers, the average FVIII:C level was higher at 80.4%. However twelve female carriers (16.9%) had FVIII:C levels < 40%. The FVIII:C/FvWAg ratio was below 0.7 in 73.2% of female drivers. Obligatory carriers (p = 0.00003) and FVIII;C/FvWAg ratio = 0.003) were statistically associated with abnormal bleeding symptoms, while blood group O (p = 0.0002) and FVIII/FvWAg ratio = 0.0016) were associated with a higher risk of menorrhagia. Conclusion: In Benin, carriers of haemophilia A present bleeding symptoms and haemostatic abnormalities. Further studies on a larger number of carriers are needed to better characterize and manage these patients.展开更多
Objective To genetically correct a disease-causing point mutation in human induced pluripotent stem cells （iPSCs） derived from a hemophilia B patient. Methods First, the disease-causing mutation was detected by ...Objective To genetically correct a disease-causing point mutation in human induced pluripotent stem cells （iPSCs） derived from a hemophilia B patient. Methods First, the disease-causing mutation was detected by sequencing the encoding area of human coagulation factor IX （F IX） gene. Genomic DNA was extracted from the iPSCs, and the primers were designed to amplify the eight exons of F IX. Next, the point mutation in those iPSCs was genetically corrected using CRISPR/Cas9 technology in the presence of a 129-nucleotide homologous repair template that contained two synonymous mutations. Then, top 8 potential off-target sites were subsequently analyzed using Sanger sequencing. Finally, the corrected clones were differentiated into hepatocyte-like cells, and the secretion of F IX was validated by immunocytochemistry and ELISA assay.Results The cell line bore a missense mutation in the 6th coding exon （c.676 C〉T） of F IX gene. Correction of the point mutation was achieved via CRISPR/Cas9 technology in situ with a high efficacy at about 22% （10/45） and no off-target effects detected in the corrected iPSC clones. F IX secretion, which was further visualized by immunocytochemistry and quantified by ELISA in vitro, reached about 6 ng/ml on day 21 of differentiation procedure. Conclusions Mutations in human disease-specific iPSCs could be precisely corrected by CRISPR/Cas9 technology, and corrected cells still maintained hepatic differentiation capability. Our findings might throw a light on iPSC-based personalized therapies in the clinical application, especially for hemophilia B.展开更多
The knee is frequently affected by severe orthopedic changes known as hemophilic arthropathy(HA) in patients with deficiency of coagulation factor Ⅷ or Ⅸ and thus this manuscript seeks to present a current perspecti...The knee is frequently affected by severe orthopedic changes known as hemophilic arthropathy(HA) in patients with deficiency of coagulation factor Ⅷ or Ⅸ and thus this manuscript seeks to present a current perspective of the role of the orthopedic surgeon in the management of these problems.Lifelong factor replacement therapy(FRT) is optimal to prevent HA,however adherence to this regerous treatment is challenging leading to breakthrough bleeding.In patients with chronic hemophilic synovitis,the prelude to HA,radiosynovectomy(RS) is the optimal to ameliorate bleeding.Surgery in people with hemophilia(PWH) is associated with a high risk of bleeding and infection,and must be performed with FRT.A coordinated effort including orthopedic surgeons,hematologists,physical medicine and rehabilitation physicians,physiotherapists and other team members is key to optimal outcomes.Ideally,orthopedic procedures should be performed in specialized hospitals with experienced teams.Until we are able to prevent orthopedic problems of the knee in PWH will have to continue performing orthopedic procedures(arthrocentesis,RS,arthroscopic synovectomy,hamstring release,arthroscopic debridement,alignment osteotomy,and total knee arthroplasty).By using the aforementioned procedures,the quality of life of PWH will be improved.展开更多
Hemobilia is a rare manifestation of hemophilia and is usually iatrogenic following liver biopsy. There are only few reports of spontaneous hemobilia in hemophilia patients. Cholangiocarcinoma is a well-established ca...Hemobilia is a rare manifestation of hemophilia and is usually iatrogenic following liver biopsy. There are only few reports of spontaneous hemobilia in hemophilia patients. Cholangiocarcinoma is a well-established cause of hemobilia. We describe a case of a 70-year-old male, with known haemophilia B and a past history of papillotomy, who presented with classical symptoms of hemobilia. The initial diagnostic work-up failed to demonstrate a potential cause of bleeding other than the coagulopathy. Three months later, he was readmitted to our hospital with a second episode of hemobilia. During the second work-up, a cholangiocarcinoma was diagnosed both by imaging studies and by a significant elevation of cancer antigen 19-9. Although hemobilia could be attributed to hemophilia, especially in a patient with previous papillotomy, an underlying malignancy of the biliary tree should be suspected.展开更多
Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including th...Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia,hemophilia,patients under hemodialysis and intravenous drug addicts.HCV genotypes were determined based on amplification with type-specific primers methods.Results:Among the 187 anti-HCV positive samples,only 135 (72.2%)gave HCV-RNA positvity.Over all,the most identified HCV type was genotype 3a(51.1%) followed by 1a(27.4%),1b(8.2%).Sixteen(11.9%)out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow:1a/1b in 11(8.2%),2/3a in 3 (2.2%),and 1a/1b/3a in 2(1.5%).Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia,hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts.Conclusions:This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran.where genotype 3a was found to be the most frequent genotype in thalassemia,hemophilia,and hemodialysis patients but not in IDAs.Since the addiction age is decreasing in Iran and a lot of addicts are IDAs.it might change the subtype pattern of HCV in general population.展开更多
To investigate the incidence,risk factors,clinical manifestations and prognosis of intracranial hemorrhage (ICH)in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children...To investigate the incidence,risk factors,clinical manifestations and prognosis of intracranial hemorrhage (ICH)in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children with hemophilia A at our hospital in recent 4 years.Thirty-six children with hemophilia A (including 19 severe cases,and 17 moderate cases complicated with joint diseases)received low dose factor Ⅷ (FⅧ) prophylaxis,and none of them had ICH.However,13 cases of hemophilia A not given prophylaxis were complicated with ICH (12 severe cases,and 1 moderate case)and demonstrated an incidence of 10.3%(13/126)in all patients,and 28.6%(12/42)in severe cases.Of the 13 cases,9 severe ICH cases had a definite history of head injury,accounting for 69.2%.Headache was common in children >3 years,but somnolence,irritability, gaze or convulsions in children <3 years.The most common findings of cranial CT scan included intracranial hematoma (9/13),and less commonly observed were subependymal hemorrhage and intraventricular hemorrhage.After administration of FⅧ,all patients survived.Hematoma of 6 cases was observed during CT reexamination after 1-3 months. During the follow-up period,only one case had slight activity limitation on one side of the limb,but steadily recovered.Besides the decreased concentration of FⅧ,trauma is the most common risk factor of ICH in children with hemophilia A.The active treatment can improve the prognosis of ICH in children with hemophilia A.展开更多
Objective Contrast-enhanced ultrasound(CEUS)is advantageous for evaluating microcirculation,and has been applied to assess arthritis in previous studies.However,CEUS examinations have not been studied for hemophilia a...Objective Contrast-enhanced ultrasound(CEUS)is advantageous for evaluating microcirculation,and has been applied to assess arthritis in previous studies.However,CEUS examinations have not been studied for hemophilia arthritis.Hemophilia arthritis is different from other arthritis,because it is induced by spontaneous joint bleeding.Hence,CEUS may have special value in evaluating hemophilia arthritis.The present study assessed the value of CEUS in evaluating synovial hypertrophy and predicting recurrent joint bleeding in severe hemophilia A patients.Methods From August 2016 to January 2017,81 severe hemophilia A patients,who were referred to our hospital for ultrasound joint assessment with conventional ultrasound,were enrolled.Among these 81 patients,46 patients consented for CEUS examinations on the same day.Results Compared to color Doppler flow imaging(CDFI),four more joints presented with a blood flow signal under CEUS mode.In addition,the synovial hypertrophy measured by CEUS was thicker than that measured by conventional ultrasound.The ultrasound scores(including the total grey-scale ultrasound score,joint effusion/hemarthrosis,synovial hypertrophy,CDFI semi-quantitative score,and CEUS semi-quantitative score)were significantly higher in the joint bleeding group than in the no joint bleeding group(P<0.05).Furthermore,these ultrasound scores were positively correlated with the joint bleeding frequency,and had the highest correlation with the CEUS score(r=0.620,P<0.05).Conclusion CEUS can more accurately assess the degree of synovial hypertrophy and vascularization,and diagnose synovitis,when compared to conventional ultrasound.In addition,CEUS appears to be essential for evaluating the possibility of recurrent joint bleeding,and providing more reliable evidence for individualized treatment.展开更多
People with hemophilia (PWH) have impaired blood coagulation and hemostasis. Bleeding into joints and muscles is the main manifestation of the disorder, causing severe joint damage and muscle complications. Lifelong, ...People with hemophilia (PWH) have impaired blood coagulation and hemostasis. Bleeding into joints and muscles is the main manifestation of the disorder, causing severe joint damage and muscle complications. Lifelong, regular physical therapy is therefore important for PWH, in order to support recovery from bleeds and reduce recurrences. Ideally, these individuals should be in the care of a hemophilia treatment center (HTC), where a physical therapist (PT) should be a regular part of the comprehensive team. However, not all PWH have convenient access to an HTC, and they may be referred to local non-specialist PTs, who may have only limited experience with the condition, for day-to-day physical therapy treatment. This article, written by four experienced hemophilia PTs, introduces key aspects of the pathology of the hemophilic joint in adult PWH with musculoskeletal complications or established joint disease (or those with inhibitors) that are relevant to PTs. The characteristic differences between the joints of PWH and those of people with similar pathologies are clarified. Practical advice on how the physical therapy consultation can be adjusted for PWH is given, and the importance of communicating with the HTC emphasized. The aim of this narrative review is to raise awareness of hemophilia and joint disease for non-specialist PTs, and serve as helpful background information for PTs who encounter PWH with musculoskeletal complications or established joint disease in their clinics.展开更多
Background: Hemophilia, a constitutional bleeding disease, has always been present in Madagascar considering children who died after bleeding circumcision, as reported in the family history of the diagnosed patients. ...Background: Hemophilia, a constitutional bleeding disease, has always been present in Madagascar considering children who died after bleeding circumcision, as reported in the family history of the diagnosed patients. Hemophilia is serious because of the potentially fatal risk of hemorrhage. The aim of this study was to evaluate the clinical, outcome and therapeutic aspects of inpatients with hemophilia in the Surgical Resuscitation Unit of JRA Hospital in Antananarivo. A descriptive and observational study was led about patients with hemophilia cared in the Surgical Resuscitation Unit from January 2011 to March 2018, studying age, type and severity of hemophilia, reason and duration of hospitalization, treatment instituted and outcome of patients. Results and comments: Thirty-six hemophiliacs (0.2%) were enrolled. The mean age was 9.52 years old;52.78% were with hemophilia B and 47.22% with hemophilia A, mainly severe. Clinical manifestations were muscle hematomas (25.71%), gum bleeding (14%), epistaxis (14.28%), gastrointestinal bleeding (11.42%), intracranial hemorrhage (11.42%), post circumcision bleeding (11.42%), hematuria, intraperitoneal hematomas and hemarthrosis. Treatment was based on factor concentrate substitution when available. The length of stay ranged from one to thirty days. The evolution was favorable except for two deaths related to delayed management of intracranial hemorrhage. Three patients with hemophilia A developed inhibitors. The results showed that throughout these years of study, a change in management was noted alongside. Conclusion: Hemophilia cases requiring hospitalization were managed in surgical resuscitation unit. The evolution was mainly related to the availability of clotting factor concentrates in coagulation factors, the delay in taking care of the patients and the presence of specialized staff.展开更多
The thrombelastogram is a method used to monitor clotting dynamics. Thrombelastography (TE) has been used to guide therapy of coagulation disorders mostly in cardiac surgery but also in liver surgery. TE is a useful t...The thrombelastogram is a method used to monitor clotting dynamics. Thrombelastography (TE) has been used to guide therapy of coagulation disorders mostly in cardiac surgery but also in liver surgery. TE is a useful tool for perioperative management of patients at risk for coagulopathy. There are several reports describing the use of the thrombelastogram in patients undergoing orthotopic liver transplantation (OLT), but only few cases include patients with both liver disease and inherited bleeding disorders. We describe the use of TE in a patient with hemophilia A and advanced cirrhosis undergoing OLT.展开更多
Patients with esophageal cancer often require esophagectomy with esophagogastrostomy.However,the incidence of complications,such as hemorrhage,during operations for esophageal cancer is high,even with minimally invasi...Patients with esophageal cancer often require esophagectomy with esophagogastrostomy.However,the incidence of complications,such as hemorrhage,during operations for esophageal cancer is high,even with minimally invasive surgery.Without the appropriate interventions,the risk of major intraoperative and postoperative hemorrhage is very high in patients with esophageal cancer and hemophilia.We report the case of a 45-year-old man with esophageal cancer and hemophilia B who underwent a successful hybrid,minimally invasive Ivor-Lewis esophagectomy with appropriate perioperative management.展开更多
We report a case of successful treatment of chronic hepatitis C infection with telaprevir-based triple therapy in a patient with hemophilia A complicated by factor Ⅷ inhibitor. A twenty-two years old male with heredi...We report a case of successful treatment of chronic hepatitis C infection with telaprevir-based triple therapy in a patient with hemophilia A complicated by factor Ⅷ inhibitor. A twenty-two years old male with hereditary hemophilia A and high-titer factor Ⅷ inhibitor was taking maintenance doses of recombinant factor Ⅷ. He visited our clinic for treatment of his chronic hepatitis C with the newly instituted protease inhibitor based therapy. He was diagnosed with hepatitis C genotype 1a at one year of age. He was initiated on telaprevir, ribavirin and peg-interferon for treatment of hepatitis C and qualified for response-guided therapy. He completed treatment at 24 wk with minimal adverse effects. Notably, after 4 wk of hepatitis C treatment, his factor Ⅷ inhibitor screen was negative and the dose for recombinant factor Ⅷ decreased by half of the initial dosing before he was treated for hepatitis C. We suspect that suppressing hepatitis C may help decrease factor Ⅷ inhibitor level and the need for recombinant factor Ⅷ.展开更多
Background: Home therapy for hemophilia reduces pain, deformity and incidence of complicationinduced hospitalizations. Therefore, it is an important component of comprehensive hemophilia care.Unfortunately, most hemop...Background: Home therapy for hemophilia reduces pain, deformity and incidence of complicationinduced hospitalizations. Therefore, it is an important component of comprehensive hemophilia care.Unfortunately, most hemophilic families in Shanxi province, China do not continue home therapy.Objective: To analyze the reasons that hemophilic families do not continue home therapy and to provide a foundation for formulating targeted interventions by the Hemophilia Treatment Center(HTC) in Shanxi Province.Methods: A qualitative phenomenological approach using purposeful sampling of 17 hemophilic families, two physicians, and one nurse from 11 branches across 11 cities in Shanxi Province. Interviews were recorded, transcribed verbatim and analyzed using qualitative content analysis.Results: Four themes were identified:(1) home therapy was generally positively evaluated;(2) concerns about the safety of home therapy;(3) an imperfect social medical security system; and(4) inadequate continuous nursing of hemophilia.Conclusions: Home therapy for hemophilia remains in a preliminary stage in Shanxi Province, and inadequate family and social support systems have obstructed the implementation of home therapy. It is necessary to develop a home therapy model suitable for hemophilic families in Shanxi Province as soon as possible. Such a model would improve the community and home care medical systems for hemophilia and guarantee home therapy throughout the entire medical care system, thus enabling more hemophilic families to carry out home therapy. Achieving these goals requires urgent research and attention from medical staff.展开更多
Aim: This paper aims at providing more information of people with hemophilia for more targeted treatment. Methods: 1149 people with hemophilia are surveyed in 45 units, and then established by EpiData software. The nu...Aim: This paper aims at providing more information of people with hemophilia for more targeted treatment. Methods: 1149 people with hemophilia are surveyed in 45 units, and then established by EpiData software. The number of people with hemophilia in 9 age intervals for the male and female is analyzed by Population Pyramid and Pareto Analysis. Results: It is found that the people with hemophilia are appearing in every age interval. Relative to the number of male patients, the number of female patients is extremely rare. Of 1134 male patients, relative frequencies for male ranked the first (23.0%), second (17.4%), third (17.2%) are 7 - 12, 2 - 3, 13 - 18 years old, respectively, while of 15 female patients, relative frequencies for female in these age intervals are only 13.3%, 13.3%, 6.7%, respectively. However, the most relative frequency of female patients is between 26 - 45 years old. Conclusion: There is a challenge of the aging hemophilia population. Most of male patients are between 7 - 12 and 2 - 3 years old. Most of female patients are between 26 - 45 years old.展开更多
基金supported by Pfizer and the Haemophilia,Experience,Results,and Opportunities(HERO)Research Grant(Novo Nordisk).
文摘Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health issues.The purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of HCs.Additionally,we aimed to investigate the mental health status of HCs in China.Methods:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this study.Long distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or F9.Coagulation factor activity was detected by a one-stage clotting assay.The Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental health.Results:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,respectively.The median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding phenotype.The total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and severe.The pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations in hemophilia mothers was 90.6%,with a median clotting factor level of 0.74 IU/mL,and 14.3%of HCs had a clotting factor level of 0.40 IU/mL or below.A history of bleeding was present in 41.2%of HCs with low clotting factor levels(less than 0.50 IU/mL).Additionally,given the fragile mental health status of HCs in China,it is critical to develop efficient strategies to improve psychological well-being.
基金Supported by Traditional Chinese Medicine Research Program of Hebei Provincial Administration of Traditional Chinese Medicine,No.2025313 and No.2025448.
文摘BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must improve.CASE SUMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 days.CONCLUSION AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.
文摘Introduction and objective: Hemophilia is a genetic bleeding disorder inherited as a recessive train linked to the male gender. Bleeding into the central nervous system in patients with hemophilia is an extremely dangerous condition that can be directly life-threatening, if left untreated. Extradural hematoma of the dorso-lumbar region is rare but potentially deadly disease in children. This condition can result in severe neurological deficits. We aim to discuss the clinical, radiological and progressive clinical aspects of this illness. Case report: We report the case of a 5-year-old child with severe hemophilia A treated for extradural hematoma of the dorso-lumbar region resulting from trauma. A spinal magnetic resonance imaging revealed an extradural hematoma. The patient was successfully treated with intensive replacement therapy and did not require surgical intervention. Conclusion: Extradural hematoma is a rare complication of hemophilia, that needs to be looked for in children who have bleeding disorders. For the best neurological outcome, early diagnosis is crucial.
文摘BACKGROUND Hemophilia A is a rare inherited bleeding disorder caused by mutations in the factor Ⅷ gene. This clotting factor plays an intrinsic role in the blood coagulation pathway. Patients with hemophilia may develop orthopedic manifestations such as hemarthrosis, but multiple malunion of fractures over the knee is rare and difficult to treat.CASE SUMMARY We report a patient with hemophilia A who developed severe knee osteoarthritis along with fracture malunion and nonunion. Total knee replacement was performed using a custom-made modular hinged knee prosthesis(cemented) equipped with extended distal and proximal stems. At 3 years’ follow-up, the patient exhibited excellent clinical function and remained satisfied with the surgical outcome. Surgical intervention was accompanied by rigorous coagulation factor replacement.CONCLUSION This case highlights various unique scenarios specific to individuals with hemophilia and fracture deformity.
文摘BACKGROUND Hemophilia, an uncommon yet consequential hereditary bleeding disorder, manifests as two clinically indistinguishable forms that hinder the normal functioning of the coagulation cascade. This impairment renders individuals more susceptible to excessive bleeding during significant surgical interventions. Moreover, individuals with severe hemophilia frequently encounter recurring hemarthrosis, resulting in progressive joint destruction and, subsequently, the need for hip and knee replacement surgeries.CASE SUMMARY The patient was a 53-year-old man with hemophilia A as the underlying disease and had self-injected factor Ⅷ twice weekly for several decades. He had undergone ankle fusion surgery for recurrent hemarthrosis at the Department of Orthopedic Surgery 1 mo prior and was referred to our department because of skin necrosis after a hematoma at the surgical site. An anterolateral thigh perforator free flap was created after three cycles of factor Ⅷ administration in addition to the concomitant administration of tranexamic acid(TXA)(Transamin 250 mg cap, 1 cap tid, q8h). After the operation, from postoperative days(PODs) 1-5, the factor Ⅷ dose and interval were maintained, and q12h administration was tapered to q24h administration after POD 6. Because the patient’s flap was stable 12 d after the operation, factor Ⅷ administration was tapered to twice a week. At 6 mo follow-up, the patient recovered well without any complications.CONCLUSION To the best of our knowledge, there are very few reports of successful free flaps in patients with hemophilia, and none have been reported in patients with hemophilia A. Moreover, there are several reports on the efficacy of TXA in free flaps in general patients;however, there are no case reports of combining factor Ⅷ and TXA in patients with hemophilia. Therefore, we report this case to contribute to future academic research.
文摘Background: In Africa, hemophilia is underdiagnosed and carriers have long been considered free from bleeding symptoms. However, recent research has begun to reveal hemostatic abnormalities and bleeding manifestations in carriers of hemophilia A, particularly due to excessive inactivation of normal X chromosomes. Objective: To describe the bleeding symptoms and hemostatic abnormalities in carriers of hemophilia A (HA) in Benin. Methods: This study was conducted as a prospective cross-sectional investigation between April 2021 to March 2022. The study population consisted of identified through pedigrees of persons with hemophilia A being treated in various hospitals in Benin. Data were collected through interviews conducted by trained physician and each carrier underwent a biological workup. Results: A total of 71 hemophilia A carriers were included and 38 of whom were obligatory carriers. Thirty-one carriers (43.7%) reported abnormal bleeding symptoms. Menorrhagia has (71%) being the most important manifestation, followed by bleeding during or after childbirth (45.2%). Among the 71 carriers, 45 were of reproductive age. Of whom 22 (48.8%) had a Higham score exceeding 100. Activated partial thromboplastin time was prolonged in 7 carriers (9.9%). The mean activity factor VIII:C (FVIII:C) levels were 68.8 ± 34.9 IU/dL. The average FVIII:C level in obligatory carriers was 56.9% and among potential carriers, the average FVIII:C level was higher at 80.4%. However twelve female carriers (16.9%) had FVIII:C levels < 40%. The FVIII:C/FvWAg ratio was below 0.7 in 73.2% of female drivers. Obligatory carriers (p = 0.00003) and FVIII;C/FvWAg ratio = 0.003) were statistically associated with abnormal bleeding symptoms, while blood group O (p = 0.0002) and FVIII/FvWAg ratio = 0.0016) were associated with a higher risk of menorrhagia. Conclusion: In Benin, carriers of haemophilia A present bleeding symptoms and haemostatic abnormalities. Further studies on a larger number of carriers are needed to better characterize and manage these patients.
基金Supported by the National Science and Technology Major Project(2011ZX09102-010-04)
文摘Objective To genetically correct a disease-causing point mutation in human induced pluripotent stem cells （iPSCs） derived from a hemophilia B patient. Methods First, the disease-causing mutation was detected by sequencing the encoding area of human coagulation factor IX （F IX） gene. Genomic DNA was extracted from the iPSCs, and the primers were designed to amplify the eight exons of F IX. Next, the point mutation in those iPSCs was genetically corrected using CRISPR/Cas9 technology in the presence of a 129-nucleotide homologous repair template that contained two synonymous mutations. Then, top 8 potential off-target sites were subsequently analyzed using Sanger sequencing. Finally, the corrected clones were differentiated into hepatocyte-like cells, and the secretion of F IX was validated by immunocytochemistry and ELISA assay.Results The cell line bore a missense mutation in the 6th coding exon （c.676 C〉T） of F IX gene. Correction of the point mutation was achieved via CRISPR/Cas9 technology in situ with a high efficacy at about 22% （10/45） and no off-target effects detected in the corrected iPSC clones. F IX secretion, which was further visualized by immunocytochemistry and quantified by ELISA in vitro, reached about 6 ng/ml on day 21 of differentiation procedure. Conclusions Mutations in human disease-specific iPSCs could be precisely corrected by CRISPR/Cas9 technology, and corrected cells still maintained hepatic differentiation capability. Our findings might throw a light on iPSC-based personalized therapies in the clinical application, especially for hemophilia B.
文摘The knee is frequently affected by severe orthopedic changes known as hemophilic arthropathy(HA) in patients with deficiency of coagulation factor Ⅷ or Ⅸ and thus this manuscript seeks to present a current perspective of the role of the orthopedic surgeon in the management of these problems.Lifelong factor replacement therapy(FRT) is optimal to prevent HA,however adherence to this regerous treatment is challenging leading to breakthrough bleeding.In patients with chronic hemophilic synovitis,the prelude to HA,radiosynovectomy(RS) is the optimal to ameliorate bleeding.Surgery in people with hemophilia(PWH) is associated with a high risk of bleeding and infection,and must be performed with FRT.A coordinated effort including orthopedic surgeons,hematologists,physical medicine and rehabilitation physicians,physiotherapists and other team members is key to optimal outcomes.Ideally,orthopedic procedures should be performed in specialized hospitals with experienced teams.Until we are able to prevent orthopedic problems of the knee in PWH will have to continue performing orthopedic procedures(arthrocentesis,RS,arthroscopic synovectomy,hamstring release,arthroscopic debridement,alignment osteotomy,and total knee arthroplasty).By using the aforementioned procedures,the quality of life of PWH will be improved.
文摘Hemobilia is a rare manifestation of hemophilia and is usually iatrogenic following liver biopsy. There are only few reports of spontaneous hemobilia in hemophilia patients. Cholangiocarcinoma is a well-established cause of hemobilia. We describe a case of a 70-year-old male, with known haemophilia B and a past history of papillotomy, who presented with classical symptoms of hemobilia. The initial diagnostic work-up failed to demonstrate a potential cause of bleeding other than the coagulopathy. Three months later, he was readmitted to our hospital with a second episode of hemobilia. During the second work-up, a cholangiocarcinoma was diagnosed both by imaging studies and by a significant elevation of cancer antigen 19-9. Although hemobilia could be attributed to hemophilia, especially in a patient with previous papillotomy, an underlying malignancy of the biliary tree should be suspected.
基金financially supported by Molecular and Cell Biology Research Center,Mazandaran University of Medical Sciences,with grant number MCBRC-MAZUMS-89-52
文摘Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia,hemophilia,patients under hemodialysis and intravenous drug addicts.HCV genotypes were determined based on amplification with type-specific primers methods.Results:Among the 187 anti-HCV positive samples,only 135 (72.2%)gave HCV-RNA positvity.Over all,the most identified HCV type was genotype 3a(51.1%) followed by 1a(27.4%),1b(8.2%).Sixteen(11.9%)out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow:1a/1b in 11(8.2%),2/3a in 3 (2.2%),and 1a/1b/3a in 2(1.5%).Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia,hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts.Conclusions:This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran.where genotype 3a was found to be the most frequent genotype in thalassemia,hemophilia,and hemodialysis patients but not in IDAs.Since the addiction age is decreasing in Iran and a lot of addicts are IDAs.it might change the subtype pattern of HCV in general population.
文摘To investigate the incidence,risk factors,clinical manifestations and prognosis of intracranial hemorrhage (ICH)in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children with hemophilia A at our hospital in recent 4 years.Thirty-six children with hemophilia A (including 19 severe cases,and 17 moderate cases complicated with joint diseases)received low dose factor Ⅷ (FⅧ) prophylaxis,and none of them had ICH.However,13 cases of hemophilia A not given prophylaxis were complicated with ICH (12 severe cases,and 1 moderate case)and demonstrated an incidence of 10.3%(13/126)in all patients,and 28.6%(12/42)in severe cases.Of the 13 cases,9 severe ICH cases had a definite history of head injury,accounting for 69.2%.Headache was common in children >3 years,but somnolence,irritability, gaze or convulsions in children <3 years.The most common findings of cranial CT scan included intracranial hematoma (9/13),and less commonly observed were subependymal hemorrhage and intraventricular hemorrhage.After administration of FⅧ,all patients survived.Hematoma of 6 cases was observed during CT reexamination after 1-3 months. During the follow-up period,only one case had slight activity limitation on one side of the limb,but steadily recovered.Besides the decreased concentration of FⅧ,trauma is the most common risk factor of ICH in children with hemophilia A.The active treatment can improve the prognosis of ICH in children with hemophilia A.
基金The study was financially supported by the Project of New Technology and New Business of Nanfang Hospital,Southern Medical University(No.2016018).
文摘Objective Contrast-enhanced ultrasound(CEUS)is advantageous for evaluating microcirculation,and has been applied to assess arthritis in previous studies.However,CEUS examinations have not been studied for hemophilia arthritis.Hemophilia arthritis is different from other arthritis,because it is induced by spontaneous joint bleeding.Hence,CEUS may have special value in evaluating hemophilia arthritis.The present study assessed the value of CEUS in evaluating synovial hypertrophy and predicting recurrent joint bleeding in severe hemophilia A patients.Methods From August 2016 to January 2017,81 severe hemophilia A patients,who were referred to our hospital for ultrasound joint assessment with conventional ultrasound,were enrolled.Among these 81 patients,46 patients consented for CEUS examinations on the same day.Results Compared to color Doppler flow imaging(CDFI),four more joints presented with a blood flow signal under CEUS mode.In addition,the synovial hypertrophy measured by CEUS was thicker than that measured by conventional ultrasound.The ultrasound scores(including the total grey-scale ultrasound score,joint effusion/hemarthrosis,synovial hypertrophy,CDFI semi-quantitative score,and CEUS semi-quantitative score)were significantly higher in the joint bleeding group than in the no joint bleeding group(P<0.05).Furthermore,these ultrasound scores were positively correlated with the joint bleeding frequency,and had the highest correlation with the CEUS score(r=0.620,P<0.05).Conclusion CEUS can more accurately assess the degree of synovial hypertrophy and vascularization,and diagnose synovitis,when compared to conventional ultrasound.In addition,CEUS appears to be essential for evaluating the possibility of recurrent joint bleeding,and providing more reliable evidence for individualized treatment.
文摘People with hemophilia (PWH) have impaired blood coagulation and hemostasis. Bleeding into joints and muscles is the main manifestation of the disorder, causing severe joint damage and muscle complications. Lifelong, regular physical therapy is therefore important for PWH, in order to support recovery from bleeds and reduce recurrences. Ideally, these individuals should be in the care of a hemophilia treatment center (HTC), where a physical therapist (PT) should be a regular part of the comprehensive team. However, not all PWH have convenient access to an HTC, and they may be referred to local non-specialist PTs, who may have only limited experience with the condition, for day-to-day physical therapy treatment. This article, written by four experienced hemophilia PTs, introduces key aspects of the pathology of the hemophilic joint in adult PWH with musculoskeletal complications or established joint disease (or those with inhibitors) that are relevant to PTs. The characteristic differences between the joints of PWH and those of people with similar pathologies are clarified. Practical advice on how the physical therapy consultation can be adjusted for PWH is given, and the importance of communicating with the HTC emphasized. The aim of this narrative review is to raise awareness of hemophilia and joint disease for non-specialist PTs, and serve as helpful background information for PTs who encounter PWH with musculoskeletal complications or established joint disease in their clinics.
文摘Background: Hemophilia, a constitutional bleeding disease, has always been present in Madagascar considering children who died after bleeding circumcision, as reported in the family history of the diagnosed patients. Hemophilia is serious because of the potentially fatal risk of hemorrhage. The aim of this study was to evaluate the clinical, outcome and therapeutic aspects of inpatients with hemophilia in the Surgical Resuscitation Unit of JRA Hospital in Antananarivo. A descriptive and observational study was led about patients with hemophilia cared in the Surgical Resuscitation Unit from January 2011 to March 2018, studying age, type and severity of hemophilia, reason and duration of hospitalization, treatment instituted and outcome of patients. Results and comments: Thirty-six hemophiliacs (0.2%) were enrolled. The mean age was 9.52 years old;52.78% were with hemophilia B and 47.22% with hemophilia A, mainly severe. Clinical manifestations were muscle hematomas (25.71%), gum bleeding (14%), epistaxis (14.28%), gastrointestinal bleeding (11.42%), intracranial hemorrhage (11.42%), post circumcision bleeding (11.42%), hematuria, intraperitoneal hematomas and hemarthrosis. Treatment was based on factor concentrate substitution when available. The length of stay ranged from one to thirty days. The evolution was favorable except for two deaths related to delayed management of intracranial hemorrhage. Three patients with hemophilia A developed inhibitors. The results showed that throughout these years of study, a change in management was noted alongside. Conclusion: Hemophilia cases requiring hospitalization were managed in surgical resuscitation unit. The evolution was mainly related to the availability of clotting factor concentrates in coagulation factors, the delay in taking care of the patients and the presence of specialized staff.
文摘The thrombelastogram is a method used to monitor clotting dynamics. Thrombelastography (TE) has been used to guide therapy of coagulation disorders mostly in cardiac surgery but also in liver surgery. TE is a useful tool for perioperative management of patients at risk for coagulopathy. There are several reports describing the use of the thrombelastogram in patients undergoing orthotopic liver transplantation (OLT), but only few cases include patients with both liver disease and inherited bleeding disorders. We describe the use of TE in a patient with hemophilia A and advanced cirrhosis undergoing OLT.
文摘Patients with esophageal cancer often require esophagectomy with esophagogastrostomy.However,the incidence of complications,such as hemorrhage,during operations for esophageal cancer is high,even with minimally invasive surgery.Without the appropriate interventions,the risk of major intraoperative and postoperative hemorrhage is very high in patients with esophageal cancer and hemophilia.We report the case of a 45-year-old man with esophageal cancer and hemophilia B who underwent a successful hybrid,minimally invasive Ivor-Lewis esophagectomy with appropriate perioperative management.
文摘We report a case of successful treatment of chronic hepatitis C infection with telaprevir-based triple therapy in a patient with hemophilia A complicated by factor Ⅷ inhibitor. A twenty-two years old male with hereditary hemophilia A and high-titer factor Ⅷ inhibitor was taking maintenance doses of recombinant factor Ⅷ. He visited our clinic for treatment of his chronic hepatitis C with the newly instituted protease inhibitor based therapy. He was diagnosed with hepatitis C genotype 1a at one year of age. He was initiated on telaprevir, ribavirin and peg-interferon for treatment of hepatitis C and qualified for response-guided therapy. He completed treatment at 24 wk with minimal adverse effects. Notably, after 4 wk of hepatitis C treatment, his factor Ⅷ inhibitor screen was negative and the dose for recombinant factor Ⅷ decreased by half of the initial dosing before he was treated for hepatitis C. We suspect that suppressing hepatitis C may help decrease factor Ⅷ inhibitor level and the need for recombinant factor Ⅷ.
基金supported by the Dr Fund of the Second Hospital of Shanxi Medical University(No.201501-2)
文摘Background: Home therapy for hemophilia reduces pain, deformity and incidence of complicationinduced hospitalizations. Therefore, it is an important component of comprehensive hemophilia care.Unfortunately, most hemophilic families in Shanxi province, China do not continue home therapy.Objective: To analyze the reasons that hemophilic families do not continue home therapy and to provide a foundation for formulating targeted interventions by the Hemophilia Treatment Center(HTC) in Shanxi Province.Methods: A qualitative phenomenological approach using purposeful sampling of 17 hemophilic families, two physicians, and one nurse from 11 branches across 11 cities in Shanxi Province. Interviews were recorded, transcribed verbatim and analyzed using qualitative content analysis.Results: Four themes were identified:(1) home therapy was generally positively evaluated;(2) concerns about the safety of home therapy;(3) an imperfect social medical security system; and(4) inadequate continuous nursing of hemophilia.Conclusions: Home therapy for hemophilia remains in a preliminary stage in Shanxi Province, and inadequate family and social support systems have obstructed the implementation of home therapy. It is necessary to develop a home therapy model suitable for hemophilic families in Shanxi Province as soon as possible. Such a model would improve the community and home care medical systems for hemophilia and guarantee home therapy throughout the entire medical care system, thus enabling more hemophilic families to carry out home therapy. Achieving these goals requires urgent research and attention from medical staff.
文摘Aim: This paper aims at providing more information of people with hemophilia for more targeted treatment. Methods: 1149 people with hemophilia are surveyed in 45 units, and then established by EpiData software. The number of people with hemophilia in 9 age intervals for the male and female is analyzed by Population Pyramid and Pareto Analysis. Results: It is found that the people with hemophilia are appearing in every age interval. Relative to the number of male patients, the number of female patients is extremely rare. Of 1134 male patients, relative frequencies for male ranked the first (23.0%), second (17.4%), third (17.2%) are 7 - 12, 2 - 3, 13 - 18 years old, respectively, while of 15 female patients, relative frequencies for female in these age intervals are only 13.3%, 13.3%, 6.7%, respectively. However, the most relative frequency of female patients is between 26 - 45 years old. Conclusion: There is a challenge of the aging hemophilia population. Most of male patients are between 7 - 12 and 2 - 3 years old. Most of female patients are between 26 - 45 years old.
