Introduction: Thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodolo...Introduction: Thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodology: A descriptive survey was taken to evaluate the awareness of thalassemia among Saudi Arabia’s society, with a sample size of 384. Results: The results were written in frequencies, and it shows that most of the participants were unaware and lacking information on thalassemia syndrome. Discussion: The results of this study provide valuable insights into the awareness of thalassemia in Saudi Arabia and highlight the need to raise awareness of this disease. Conclusion: This study is not comprehensive because the survey was not disrupted evenly, but it can give us an overview of the awareness of thalassemia in Saudi Arabia, and it shows that most of the participants were unaware and lacked information on thalassemia.展开更多
Thalassemia syndrome is a genetic blood disorder induced by the reduction of normal hemoglobin production,resulting in a drop in the size of red blood cells.In severe forms,it can lead to death.This genetic disorder h...Thalassemia syndrome is a genetic blood disorder induced by the reduction of normal hemoglobin production,resulting in a drop in the size of red blood cells.In severe forms,it can lead to death.This genetic disorder has posed a major burden on public health wherein patients with severe thalassemia need periodic therapy of iron chelation and blood transfusion for survival.Therefore,controlling thalassemia is extremely important and is made by promoting screening to the general population,particularly among thalassemia carriers.Today Twitter is one of the most influential social media platforms for sharing opinions and discussing different topics like people’s health conditions and major public health affairs.Exploring individuals’sentiments in these tweets helps the research centers to formulate strategies to promote thalassemia screening to the public.An effective Lexiconbased approach has been introduced in this study by highlighting a classifier called valence aware dictionary for sentiment reasoning(VADER).In this study applied twitter intelligence tool(TWINT),Natural Language Toolkit(NLTK),and VADER constitute the three main tools.VADER represents a gold-standard sentiment lexicon,which is basically tailored to attitudes that are communicated by using social media.The contribution of this study is to introduce an effective Lexicon-based approach by highlighting a classifier calledVADERto analyze the sentiment of the general population,particularly among thalassemia carriers on the social media platform Twitter.In this study,the results showed that the proposed approach achieved 0.829,0.816,and 0.818 regarding precision,recall,together with F-score,respectively.The tweets were crawled using the search keywords,“thalassemia screening,”thalassemia test,“and thalassemia diagnosis”.Finally,results showed that India and Pakistan ranked the highest in mentions in tweets by the public’s conversations on thalassemia screening with 181 and 164 tweets,respectively.展开更多
BACKGROUND Iron deficiency anemia(IDA)and thalassemia trait(TT)are the most common microcytic and hypochromic anemias.Differentiation between mild TT and early IDA is still a clinical challenge.AIM To develop and vali...BACKGROUND Iron deficiency anemia(IDA)and thalassemia trait(TT)are the most common microcytic and hypochromic anemias.Differentiation between mild TT and early IDA is still a clinical challenge.AIM To develop and validate a new index for discriminating between IDA and TT.METHODS Blood count data from 126 patients,consisting of 43 TT patients and 83 IDA pa-tients,was retrospectively analyzed to develop a new index formula.This formula was further validated in another 61 patients,consisting of 48 TT patients and 13 IDA patients.RESULTS The new index is the ratio of hemoglobin to mean corpuscular volume.Its sen-sitivity,specificity,accuracy,Youden’s Index,area under the receiver operating characteristic curve,and Kappa coefficient in discriminating between IDA and TT were 93.5%,78.4%,83.3%,0.72,0.97,and 0.65,respectively.CONCLUSION This new index has good diagnostic performance in discriminating between mild TT and early IDA.It requires only two results of complete blood count,which can be a very desirable feature in under-resourced scenarios.展开更多
Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all amon...Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.展开更多
Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematolog...Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.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
Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this...Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.展开更多
The case of a 32-year-old black woman of African descent who suffered from repeated episodes of acute pancreatitis, initially triggered when flying on airplanes, is reported. She did not drink alcohol or smoke. Geneti...The case of a 32-year-old black woman of African descent who suffered from repeated episodes of acute pancreatitis, initially triggered when flying on airplanes, is reported. She did not drink alcohol or smoke. Genetic analysis was negative for cationic trypsinogen, serine protease inhibitor Kazal type 1 and chymotrypsin C. However, hemoglobin F was elevated. Sequencing of the thalassemia gene revealed a novel alteration in the 5' region indicative of a functional abnormality of the molecule. Sequencing the cystic fibrosis transmembrane conductance regulator(CFTR) gene revealed a heterozygote sequence variant. The combination of a hemoglobin gene mutation known for thalassemia in conjunction with the hitherto undescribed CFTR mutation is suggested to pave the road for initial and repetitive pancreatitis attacks. This will be discussed.展开更多
Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide.Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron...Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide.Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron.The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.Ferroportin is the sole cellular iron export protein,and its expression is regulated transcriptionally,post-transcriptionally and posttranslationally.Hepcidin,a hormone produced by liver cells,post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes.Dysregulation of iron homeostasis leading to iron deposition in vital organs is the main cause of death in betathalassemia patients.Beta-thalassemia patients show marked hepcidin suppression,ineffective eiythropoiesis,anemia and iron overload.Beta-thalassemia is common in the Mediterranean region,Southeast Asia and the Indian subcontinent,and the focus of this review is to provide an update on the factors mediating hepcidin related iron dysregulation in beta-thalassemia disease.Understanding this process may pave the way for new treatments to ameliorate iron overloading and improve the long term prognosis of these patients.展开更多
Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on pren...Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.展开更多
Due to blood transfusions,thalassemics are often infected with either hepatitis C virus(HCV)or hepatitis B virus and often have hemochromatosis.Hepatocellular carcinoma(HCC)has emerged in thalassemics only recently as...Due to blood transfusions,thalassemics are often infected with either hepatitis C virus(HCV)or hepatitis B virus and often have hemochromatosis.Hepatocellular carcinoma(HCC)has emerged in thalassemics only recently as a result of the improvement in thalassemia outcomes.In fact,a prospective study estimated an HCC incidence inβ-thalassemia of about 2%.Although data are scanty,HCC screening in thalassemics with risk factors for HCC should be carried out.HCV treatments have some efficacy in HCV infected thalassemics despite partial contraindication to ribavirin and iron overload.However,there are no data on how HCV treatment translates into HCC prevention.Preliminary data suggest that HCC treatment in thalassemics should generally have the same outcomes as in nonthalassemics.Although coexistence of severe comorbidities makes liver transplantation challenging,this therapeutic possibility should not be precluded for well selected HCCβ-thalassemia patients.In fact,2 transfusion dependent adult HCCβ-thalassemia patients have recently undergone successful liver transplantation with a good outcome.In conclusion,HCC seems to be a developing issue in thalassemia and HCC screening should be carried out.HCC treatment,including liver transplantation,can be performed in selected patients. A multidisciplinary effort is needed for management.展开更多
Objective:To test the hypothesis that concentration of amniotic fluid alpha-fetal protein(AFAFP) is increased in thalassemia fetus.Methods:A total of 135 cases of amniocentesis admitted from July 2013 to December 2014...Objective:To test the hypothesis that concentration of amniotic fluid alpha-fetal protein(AFAFP) is increased in thalassemia fetus.Methods:A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study.Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group.Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups.There is no significant difference in gestrational age between the two groups.Results:1.AFP concentration in thalassemia fetus group was significantly higher than that of normal control group [(1541.65±734.78) μg/mL vs.(2728.84± 1539.97) μg/mL ],and amniotic fluid AFP concentration was related to fetal thalassemia.2.AFAFP concentration in pureα-thalassemia fetus was higher than that of β thalassemia fetus or mixed αand was not significant.Conclusions:Concentration of a β thalassemia fetus,but the difference mniotic fluid alpha-fetal protein is increased in thalassemia fetus.AFP concentration inα-thalassemia fetus was higher than that of β thalassemia or mixed αand lore β thalassemia fetus but difference was not significance.Further studies are needed to exp the possible correlation between Down syndrome and biochemical markers of Thalassemia.展开更多
Myocardial siderosis is known as the major cause of death in thalassemia major(TM) patients since it can lead to iron overload cardiomyopathy.Although this condition can be prevented if timely effective intensive chel...Myocardial siderosis is known as the major cause of death in thalassemia major(TM) patients since it can lead to iron overload cardiomyopathy.Although this condition can be prevented if timely effective intensive chelation is given to patients,the mortality rate of iron overload cardiomyopathy still remains high due to late detection of this condition.Various direct and indirect methods of iron assessment,including serum ferritin level,echocardiogram,non-transferrin-bound iron,cardiac magnetic resonance T2*,heart rate variability,and liver biopsy and myocardial biopsy,have been proposed for early detection of cardiac iron overload in TM patients.However,controversial evidence and limitations of their use in clinical practice exist.In this review article,all of these iron assessment methods that have been proposed or used to directly or indirectly determine the cardiac iron status in TM reported from both basic and clinical studies are comprehensively summarized and presented.Since there has been growing evidence in the past decades that cardiac magnetic resonance imaging as well as cardiac autonomic status known as the heart rate variability can provide early detection of cardiac involvement in TM patients,these two methods are also presented and discussed.The existing controversy regarding the assessment of cardiac involvement in thalassemia is also discussed.展开更多
Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease.We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman,carrier of th...Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease.We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman,carrier of the alphathalassemia trait(homozygous deletion of locus-3.7) combined with sickle cell trait.While the patient was included as healthy volunteer for a metabolic study,we performed cardiac magnetic resonance imagery showing a left ventricle apicolateral myocardial infarction.Coronary computed tomography angiography showed normal coronary arteries with a coronary calcium score of 0.The patient was treated with low-dose aspirin in secondary prevention afterwards.This case allows us to discuss cardiovascular risk among patients presenting with both alpha-thalassemia trait and sickle cell trait and the indication of cardiac imagery in such patients even when considered as low-cardiovascular risk.展开更多
A 49 years old Vietnamese male with a history of thalassemia,presented with gastrointestinal symptoms and signs of hemolysis.He was diagnosed with yersinia enterocolitis.Yersinia is a gram-negative rod that most frequ...A 49 years old Vietnamese male with a history of thalassemia,presented with gastrointestinal symptoms and signs of hemolysis.He was diagnosed with yersinia enterocolitis.Yersinia is a gram-negative rod that most frequently occurs in children especially during the winter months.In the current case,the bone marrow biopsy showed hemophagocytosis along with positive cultures for Yersinia.The microorganism likely triggered hemophagocytosis.This syndrome,also known as,hemophagocytic lymphohistiocytosis,is defined by fever for more than 7 d,cytopenia of two or more cell lines,hemophagocytosis,hepatitis,serum ferritin greater than500,jaundice,lymphadenopathy,and hepatosplenomegaly.This disorder can be either familial or secondary to a strong immunologic activation.Both have an overwhelming activation of T-cells and macrophages.展开更多
AIM: To investigate ophthalmologic findings in children with thalassemia major(TM) and compare the findings with healthy controls. ·METHODS: In a cross-sectional study,43 children with thalassemia major from pedi...AIM: To investigate ophthalmologic findings in children with thalassemia major(TM) and compare the findings with healthy controls. ·METHODS: In a cross-sectional study,43 children with thalassemia major from pediatric hematology outpatient clinics from two university hospitals and age/sex matched 47 healthy children were included in the study. After a complete ophthalmic examination,tear function tests including the Schirmer test,fluorescein tear breakup time(BUT),ultrasound pachymetry,and axial length measurement were performed. Obtained data was recorded for statistical analysis and the values of right eyes were compared between groups. ·RESULTS: The mean best corrected visual acuity was 1.34 ±0.75 in TM and 1.08 ±0.28 in controls. It was found lower than 0.1 logMAR unit in 10(23.2%) children with TM and 2(4.2%) in controls,and the difference was statistically significant(P <0.05). The mean central corneal thickness was 540±26.95 in children with TM and 536.98± 20.45μm in controls(P >0.05). The mean axial length was 22.53±0.50 in TM and 22.57±0.43mm in the control group. The mean Schirmer test score was 19.94±6.91 in TM and 24.22±3.95mm in the control group(P <0.01). The mean BUT score was 9.62 ±1.28 in TM and 9.73 ±0.6s in the control group(P >0.05). ·CONCLUSION: In TM,while corneal thickness,axial length,and BUT are close to controls,the Schirmer scores are less than normal. The study revealed that TM may be affected by the tear function and visual acuity.展开更多
Forty children with thalassemia major were treated with gelfoam particles for partialsplenic embolization (PSE).The embolization of the spleen ranged from 50 to 85 per cent.Af-ter PSE,the spleen shrank greatly,and the...Forty children with thalassemia major were treated with gelfoam particles for partialsplenic embolization (PSE).The embolization of the spleen ranged from 50 to 85 per cent.Af-ter PSE,the spleen shrank greatly,and the symptoms of anemia improved.The immunologicalfunction of the body was the same as before PSE.All patients showed a marked reduction intransfusion requirements.Therefore,it is believed that PSE is an effective therapy for tha-lassemia major.展开更多
A case of β-thalassemia major with a huge mass of hernatopoictic tissuc firmly attached tothe dura mater was reported This is the first case reported in China.
Objective: Since pre-transfusion screening for Toxoplasma gondii is not performed on blood packs, thalassemia patients are susceptible to acquiring toxoplasmosis;thus, the aim of this study was to evaluate the seropre...Objective: Since pre-transfusion screening for Toxoplasma gondii is not performed on blood packs, thalassemia patients are susceptible to acquiring toxoplasmosis;thus, the aim of this study was to evaluate the seroprevalence status of T. gondii in individuals who suffer from thalassemia in comparison to healthy persons in the southwest of Iran. Methods: In this case-control study, 117 thalassemia patients and 205 healthy persons participated. All samples were tested for the presence of specific IgG and IgM antibodies against T. gondii using ELISA technique. Data were analyzed using Chi-square test. Results: Seroprevalence of anti-T. gondii IgG was detected in 30.76% (36/117) of patients and 20% (41/205) of healthy individuals (P=0.04), also anti-T. gondii IgM in these groups was detected 1.70% (2/117) and 0.48% (1/205), respectively (P=0.3). In present study, nine related risk factors with toxoplasmosis were evaluated and data analysis showed that only contact with cat was significantly correlated with IgG seroprevalence (P=0.02). Conclusions: Current research suggests thalassemia patients are more prone than normal persons to acquiring T. gondii infection (P=0.04, OR:1.77). Due to limited studies in this high risk group, further studies are recommended.展开更多
Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people of childbearing age of Hengxian in Guangxi,to further provide scientific data for the diagnosis,tr...Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people of childbearing age of Hengxian in Guangxi,to further provide scientific data for the diagnosis,treatment and prepotency consultation for thalassemia.Methods:A total of 12,489subjects at childbearing age who were undergoing a routine prenatal check-up in Hengxian family planning service stations were recruited in this study between January 2014and December 2014.They were screened for thalassemia by mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).The people with positive results then underwent thalassemia gene test.The G6PD activities were measured by enzyme kinetic method.Results:The incidence of thalassemia was 20.26%(2,530/12,489)in Hengxian,among which the incidences ofα-thalassemia,β-thalassemia,andα-thalassemia co-inheritance ofβ-thalassemia were13.20%,6.13%and 0.93%respectively.The incidence of G6PD deficiency was 5.39%(617/12,489),and the ratio between male and female is 4.27∶1.25types ofα-thalassemia genotype and 8types ofβ-thalassemia genotype were identified.The genotypes ofSEA/ααand the genotypes of41-42Mβ/Nβwere the most common genetic types forα-thalassemia andβ-thalassemia respectively.Conclusion:Hengxian is a high prevalence area of thalassemia and G6PD deficiency.SEAmutation type is the most common type inα-thalassemia,and the CD 41-42mutation is the most common type inβ-thalassemia in Hengxian.展开更多
文摘Introduction: Thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodology: A descriptive survey was taken to evaluate the awareness of thalassemia among Saudi Arabia’s society, with a sample size of 384. Results: The results were written in frequencies, and it shows that most of the participants were unaware and lacking information on thalassemia syndrome. Discussion: The results of this study provide valuable insights into the awareness of thalassemia in Saudi Arabia and highlight the need to raise awareness of this disease. Conclusion: This study is not comprehensive because the survey was not disrupted evenly, but it can give us an overview of the awareness of thalassemia in Saudi Arabia, and it shows that most of the participants were unaware and lacked information on thalassemia.
基金The authors are thankful to the Deanship of Scientific Research at Najran University for funding this work under the Research Collaboration Funding program grant coder NU/RC/SERC/11/5.
文摘Thalassemia syndrome is a genetic blood disorder induced by the reduction of normal hemoglobin production,resulting in a drop in the size of red blood cells.In severe forms,it can lead to death.This genetic disorder has posed a major burden on public health wherein patients with severe thalassemia need periodic therapy of iron chelation and blood transfusion for survival.Therefore,controlling thalassemia is extremely important and is made by promoting screening to the general population,particularly among thalassemia carriers.Today Twitter is one of the most influential social media platforms for sharing opinions and discussing different topics like people’s health conditions and major public health affairs.Exploring individuals’sentiments in these tweets helps the research centers to formulate strategies to promote thalassemia screening to the public.An effective Lexiconbased approach has been introduced in this study by highlighting a classifier called valence aware dictionary for sentiment reasoning(VADER).In this study applied twitter intelligence tool(TWINT),Natural Language Toolkit(NLTK),and VADER constitute the three main tools.VADER represents a gold-standard sentiment lexicon,which is basically tailored to attitudes that are communicated by using social media.The contribution of this study is to introduce an effective Lexicon-based approach by highlighting a classifier calledVADERto analyze the sentiment of the general population,particularly among thalassemia carriers on the social media platform Twitter.In this study,the results showed that the proposed approach achieved 0.829,0.816,and 0.818 regarding precision,recall,together with F-score,respectively.The tweets were crawled using the search keywords,“thalassemia screening,”thalassemia test,“and thalassemia diagnosis”.Finally,results showed that India and Pakistan ranked the highest in mentions in tweets by the public’s conversations on thalassemia screening with 181 and 164 tweets,respectively.
基金The study was reviewed and approved by the Shanghai Tenth People’s Hospital Institutional Review Board(Approval No.23K190).
文摘BACKGROUND Iron deficiency anemia(IDA)and thalassemia trait(TT)are the most common microcytic and hypochromic anemias.Differentiation between mild TT and early IDA is still a clinical challenge.AIM To develop and validate a new index for discriminating between IDA and TT.METHODS Blood count data from 126 patients,consisting of 43 TT patients and 83 IDA pa-tients,was retrospectively analyzed to develop a new index formula.This formula was further validated in another 61 patients,consisting of 48 TT patients and 13 IDA patients.RESULTS The new index is the ratio of hemoglobin to mean corpuscular volume.Its sen-sitivity,specificity,accuracy,Youden’s Index,area under the receiver operating characteristic curve,and Kappa coefficient in discriminating between IDA and TT were 93.5%,78.4%,83.3%,0.72,0.97,and 0.65,respectively.CONCLUSION This new index has good diagnostic performance in discriminating between mild TT and early IDA.It requires only two results of complete blood count,which can be a very desirable feature in under-resourced scenarios.
文摘Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.
文摘Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.
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.
基金the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033].
文摘Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.
文摘The case of a 32-year-old black woman of African descent who suffered from repeated episodes of acute pancreatitis, initially triggered when flying on airplanes, is reported. She did not drink alcohol or smoke. Genetic analysis was negative for cationic trypsinogen, serine protease inhibitor Kazal type 1 and chymotrypsin C. However, hemoglobin F was elevated. Sequencing of the thalassemia gene revealed a novel alteration in the 5' region indicative of a functional abnormality of the molecule. Sequencing the cystic fibrosis transmembrane conductance regulator(CFTR) gene revealed a heterozygote sequence variant. The combination of a hemoglobin gene mutation known for thalassemia in conjunction with the hitherto undescribed CFTR mutation is suggested to pave the road for initial and repetitive pancreatitis attacks. This will be discussed.
基金supported by the Thailand Research Fund(BRG5780004, IRG5780009 and IRN58W0002)by a Research Chair Grant from the National Science and Technology Development Agency(NSTDA)supported by a Thai Royal Golden Jubilee Ph.D.Research Scholarship(PHD/0101/2553)
文摘Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide.Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron.The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.Ferroportin is the sole cellular iron export protein,and its expression is regulated transcriptionally,post-transcriptionally and posttranslationally.Hepcidin,a hormone produced by liver cells,post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes.Dysregulation of iron homeostasis leading to iron deposition in vital organs is the main cause of death in betathalassemia patients.Beta-thalassemia patients show marked hepcidin suppression,ineffective eiythropoiesis,anemia and iron overload.Beta-thalassemia is common in the Mediterranean region,Southeast Asia and the Indian subcontinent,and the focus of this review is to provide an update on the factors mediating hepcidin related iron dysregulation in beta-thalassemia disease.Understanding this process may pave the way for new treatments to ameliorate iron overloading and improve the long term prognosis of these patients.
基金supported by Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)International Science&Technology Cooperation Program of China(No.2014DFA30180)+2 种基金Hainan Provincial Natural Science Foundation of China(No.2019CXTD408)National Natural Science Foundation of China(No.81060016,31140021,81260032,81460034,81660433)Hainan Provincial Science and Technology Department(No.YJJC20120007,2012-GH009,ZDZX2013003 and KJHZ2014-11).
文摘Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.
文摘Due to blood transfusions,thalassemics are often infected with either hepatitis C virus(HCV)or hepatitis B virus and often have hemochromatosis.Hepatocellular carcinoma(HCC)has emerged in thalassemics only recently as a result of the improvement in thalassemia outcomes.In fact,a prospective study estimated an HCC incidence inβ-thalassemia of about 2%.Although data are scanty,HCC screening in thalassemics with risk factors for HCC should be carried out.HCV treatments have some efficacy in HCV infected thalassemics despite partial contraindication to ribavirin and iron overload.However,there are no data on how HCV treatment translates into HCC prevention.Preliminary data suggest that HCC treatment in thalassemics should generally have the same outcomes as in nonthalassemics.Although coexistence of severe comorbidities makes liver transplantation challenging,this therapeutic possibility should not be precluded for well selected HCCβ-thalassemia patients.In fact,2 transfusion dependent adult HCCβ-thalassemia patients have recently undergone successful liver transplantation with a good outcome.In conclusion,HCC seems to be a developing issue in thalassemia and HCC screening should be carried out.HCC treatment,including liver transplantation,can be performed in selected patients. A multidisciplinary effort is needed for management.
基金supported by the National Key Developing Project for Basic Research 2012CB966502Hainan Provencial Research Project(10086)+1 种基金Hainan Provencial Key Research Project(ZDXM 20130063)National University Student’s Independent Innovative Project(201411810048)
文摘Objective:To test the hypothesis that concentration of amniotic fluid alpha-fetal protein(AFAFP) is increased in thalassemia fetus.Methods:A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study.Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group.Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups.There is no significant difference in gestrational age between the two groups.Results:1.AFP concentration in thalassemia fetus group was significantly higher than that of normal control group [(1541.65±734.78) μg/mL vs.(2728.84± 1539.97) μg/mL ],and amniotic fluid AFP concentration was related to fetal thalassemia.2.AFAFP concentration in pureα-thalassemia fetus was higher than that of β thalassemia fetus or mixed αand was not significant.Conclusions:Concentration of a β thalassemia fetus,but the difference mniotic fluid alpha-fetal protein is increased in thalassemia fetus.AFP concentration inα-thalassemia fetus was higher than that of β thalassemia or mixed αand lore β thalassemia fetus but difference was not significance.Further studies are needed to exp the possible correlation between Down syndrome and biochemical markers of Thalassemia.
基金Supported by Thailand Research Fund grants RTA5580006 and BRG5480003
文摘Myocardial siderosis is known as the major cause of death in thalassemia major(TM) patients since it can lead to iron overload cardiomyopathy.Although this condition can be prevented if timely effective intensive chelation is given to patients,the mortality rate of iron overload cardiomyopathy still remains high due to late detection of this condition.Various direct and indirect methods of iron assessment,including serum ferritin level,echocardiogram,non-transferrin-bound iron,cardiac magnetic resonance T2*,heart rate variability,and liver biopsy and myocardial biopsy,have been proposed for early detection of cardiac iron overload in TM patients.However,controversial evidence and limitations of their use in clinical practice exist.In this review article,all of these iron assessment methods that have been proposed or used to directly or indirectly determine the cardiac iron status in TM reported from both basic and clinical studies are comprehensively summarized and presented.Since there has been growing evidence in the past decades that cardiac magnetic resonance imaging as well as cardiac autonomic status known as the heart rate variability can provide early detection of cardiac involvement in TM patients,these two methods are also presented and discussed.The existing controversy regarding the assessment of cardiac involvement in thalassemia is also discussed.
文摘Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease.We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman,carrier of the alphathalassemia trait(homozygous deletion of locus-3.7) combined with sickle cell trait.While the patient was included as healthy volunteer for a metabolic study,we performed cardiac magnetic resonance imagery showing a left ventricle apicolateral myocardial infarction.Coronary computed tomography angiography showed normal coronary arteries with a coronary calcium score of 0.The patient was treated with low-dose aspirin in secondary prevention afterwards.This case allows us to discuss cardiovascular risk among patients presenting with both alpha-thalassemia trait and sickle cell trait and the indication of cardiac imagery in such patients even when considered as low-cardiovascular risk.
文摘A 49 years old Vietnamese male with a history of thalassemia,presented with gastrointestinal symptoms and signs of hemolysis.He was diagnosed with yersinia enterocolitis.Yersinia is a gram-negative rod that most frequently occurs in children especially during the winter months.In the current case,the bone marrow biopsy showed hemophagocytosis along with positive cultures for Yersinia.The microorganism likely triggered hemophagocytosis.This syndrome,also known as,hemophagocytic lymphohistiocytosis,is defined by fever for more than 7 d,cytopenia of two or more cell lines,hemophagocytosis,hepatitis,serum ferritin greater than500,jaundice,lymphadenopathy,and hepatosplenomegaly.This disorder can be either familial or secondary to a strong immunologic activation.Both have an overwhelming activation of T-cells and macrophages.
文摘AIM: To investigate ophthalmologic findings in children with thalassemia major(TM) and compare the findings with healthy controls. ·METHODS: In a cross-sectional study,43 children with thalassemia major from pediatric hematology outpatient clinics from two university hospitals and age/sex matched 47 healthy children were included in the study. After a complete ophthalmic examination,tear function tests including the Schirmer test,fluorescein tear breakup time(BUT),ultrasound pachymetry,and axial length measurement were performed. Obtained data was recorded for statistical analysis and the values of right eyes were compared between groups. ·RESULTS: The mean best corrected visual acuity was 1.34 ±0.75 in TM and 1.08 ±0.28 in controls. It was found lower than 0.1 logMAR unit in 10(23.2%) children with TM and 2(4.2%) in controls,and the difference was statistically significant(P <0.05). The mean central corneal thickness was 540±26.95 in children with TM and 536.98± 20.45μm in controls(P >0.05). The mean axial length was 22.53±0.50 in TM and 22.57±0.43mm in the control group. The mean Schirmer test score was 19.94±6.91 in TM and 24.22±3.95mm in the control group(P <0.01). The mean BUT score was 9.62 ±1.28 in TM and 9.73 ±0.6s in the control group(P >0.05). ·CONCLUSION: In TM,while corneal thickness,axial length,and BUT are close to controls,the Schirmer scores are less than normal. The study revealed that TM may be affected by the tear function and visual acuity.
文摘Forty children with thalassemia major were treated with gelfoam particles for partialsplenic embolization (PSE).The embolization of the spleen ranged from 50 to 85 per cent.Af-ter PSE,the spleen shrank greatly,and the symptoms of anemia improved.The immunologicalfunction of the body was the same as before PSE.All patients showed a marked reduction intransfusion requirements.Therefore,it is believed that PSE is an effective therapy for tha-lassemia major.
文摘A case of β-thalassemia major with a huge mass of hernatopoictic tissuc firmly attached tothe dura mater was reported This is the first case reported in China.
文摘Objective: Since pre-transfusion screening for Toxoplasma gondii is not performed on blood packs, thalassemia patients are susceptible to acquiring toxoplasmosis;thus, the aim of this study was to evaluate the seroprevalence status of T. gondii in individuals who suffer from thalassemia in comparison to healthy persons in the southwest of Iran. Methods: In this case-control study, 117 thalassemia patients and 205 healthy persons participated. All samples were tested for the presence of specific IgG and IgM antibodies against T. gondii using ELISA technique. Data were analyzed using Chi-square test. Results: Seroprevalence of anti-T. gondii IgG was detected in 30.76% (36/117) of patients and 20% (41/205) of healthy individuals (P=0.04), also anti-T. gondii IgM in these groups was detected 1.70% (2/117) and 0.48% (1/205), respectively (P=0.3). In present study, nine related risk factors with toxoplasmosis were evaluated and data analysis showed that only contact with cat was significantly correlated with IgG seroprevalence (P=0.02). Conclusions: Current research suggests thalassemia patients are more prone than normal persons to acquiring T. gondii infection (P=0.04, OR:1.77). Due to limited studies in this high risk group, further studies are recommended.
基金supported by agrant from Guangxi Science and Technique foundation of Population and Family Planning(No.1108)
文摘Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people of childbearing age of Hengxian in Guangxi,to further provide scientific data for the diagnosis,treatment and prepotency consultation for thalassemia.Methods:A total of 12,489subjects at childbearing age who were undergoing a routine prenatal check-up in Hengxian family planning service stations were recruited in this study between January 2014and December 2014.They were screened for thalassemia by mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).The people with positive results then underwent thalassemia gene test.The G6PD activities were measured by enzyme kinetic method.Results:The incidence of thalassemia was 20.26%(2,530/12,489)in Hengxian,among which the incidences ofα-thalassemia,β-thalassemia,andα-thalassemia co-inheritance ofβ-thalassemia were13.20%,6.13%and 0.93%respectively.The incidence of G6PD deficiency was 5.39%(617/12,489),and the ratio between male and female is 4.27∶1.25types ofα-thalassemia genotype and 8types ofβ-thalassemia genotype were identified.The genotypes ofSEA/ααand the genotypes of41-42Mβ/Nβwere the most common genetic types forα-thalassemia andβ-thalassemia respectively.Conclusion:Hengxian is a high prevalence area of thalassemia and G6PD deficiency.SEAmutation type is the most common type inα-thalassemia,and the CD 41-42mutation is the most common type inβ-thalassemia in Hengxian.
