摘要
目的通过总结34例镰状细胞综合征（Hb S病）患者的血液学指标,分析其所导致的血液学和临床特点。方法选取2005年3月—2013年11月于广东省人民医院就诊的Hb S病患者34例为研究对象,早晨空腹负压抽取静脉血进行血常规分析、血红蛋白（Hb）电泳分析、红细胞镰变试验、变性珠蛋白小体（Heinz小体）试验、铁蛋白检测及葡萄糖-6-磷酸脱氢酶/6-磷酸葡萄糖酸脱氢酶（G6PD/6PGD）检测。结果 4例血红蛋白S（Hb S）纯合子患儿均未见正常Hb A区带,大部分以Hb S区带为主,少量Hb A2区带;呈中度贫血。有3个Hb S纯合子家系,父母均为Hb S杂合子。Hb S杂合子成人患者中只有5例Hb在92-97 g/L,呈轻度贫血,其余患者Hb均〉110 g/L。Hb S杂合子新生儿患者中Hb S含量低,低于7.00%。胎儿脐血和新生儿各有1例同时出现Hb S和Hb Barts区带,提示Hb S-α地中海贫血。1例孕妇是Hb S杂合子,孕32周＋6行胎儿脐血分析是Hb S-α地中海贫血。1例男婴的血常规分析与Hb电泳分析结果提示其为Hb S-β地中海贫血。婴儿、儿童、成人红细胞镰变试验阳性。4例成人Hb S-α地中海贫血患者Heinz小体试验为阳性。1例Hb S杂合子患者铁蛋白低,为2.4μg/L。4例男性Hb S杂合子患者G6PD/6PGD为0.11~0.29,3例女性Hb S杂合子患者G6PD/6PGD为0.51~0.70。结论 Hb S纯合子患者因Hb S取代了正常的Hb A,容易导致血管栓塞,引起慢性溶血性贫血等临床症状,呈中度贫血;Hb S杂合子大部分不会对个体的临床表型产生影响,所以一般无临床症状或极少数症状较轻;Hb S-α地中海贫血、Hb S-β地中海贫血均可引起轻度贫血;Hb S杂合子合并缺铁性贫血、Hb S杂合子合并G6PD缺乏可加重贫血症状,呈中度贫血。
Objective To summarize hematological indicators of 34 cases of sickle cell syndrome（ Hb S disease）,and to analyze the hematology and clinical characteristics. Methods A total of 34 patients with Hb S disease who were treated in Guangdong General Hospital from March 2005 to November 2013,were selected as study subjects,all cases were compliant with inclusion and exclusion criteria. The fasting peripheral blood specimens of cases were obtained in the morning for routine blood analysis,hemoglobin electrophoresis, erythrocyte sickling test, Heinz body experiment, ferritin detection and G6 PD /6PGD enzyme activity analysis. Results The normal Hb A electrophoresis strip was not found in four cases with Hb S homozygous,the Hb S electrophoresis strip was common,the Hb A2 electrophoresis strip was not common,cases had moderate anemia. There were3 families with Hb S homozygous, all parents were Hb S heterozygote. Among adults with Hb S heterozygote, the hemoglobin concentration of only 5 cases was 92-97 g / L,and these 5 cases had mild anemia,the hemoglobin concentration of the rest adults with Hb S heterozygote was above 110 g / L. The newborns with Hb S heterozygote had low Hb S content（ 〈7. 00%）. One case of fetal umbilical cord blood and one case of newborn blood presented Hb S and Hb Barts electrophoresis strip simutaneously,which indicated they were Hb S-α thalassemia patients. One pregnant woman was Hb S heterozygote,fetal umbilical cord blood analysis suggested Hb S-α thalassemia on 32 weeks of pregnancy. The results of routine blood analysis and hemoglobin electrophoresis of 1 case of male infant indicated he was a Hb S-β thalassemia patient. The erythrocyte sickling test result of baby,child and adult showed positive. Heinz body experiment presented positive in 4 adults with Hb S-α thalassemia. One case of Hb S heterozygote patient had low ferritin content（ 2. 4 ng / ml）. The G6 PD /6PGD ratio was 0. 11-0. 29 in 4 male Hb S heterozygous patients,and the G6 PD /6PGD ratio was 0. 51-0. 70 in 3 female patients with Hb S heterozygous. Conclusion For homozygous Hb S patients,normal Hb A is substituted by Hb S, therefore, it is easy to lead to vascular embolism and chronic hemolytic anemia,the clinical phenotype of abnormal Hb S homozygote is moderate anemia; in most cases,heterozygous Hb S don＇ t affect clinical phenotype of individuals, so there is no symptoms, or few cases have mild clinical manifestations; both Hb S-αthalassemia and Hb S-β thalassemia can cause mild anemia; heterozygous Hb S complicated with iron-deficiency anemia,and heterozygous Hb S complicated with G6 PD deficiency may aggravate the symptoms of anemia,which leads to moderate anemia.
出处
《中国全科医学》
CAS
CSCD
北大核心
2015年第12期1449-1453,共5页
Chinese General Practice
关键词
镰状细胞综合征
血液学
病理学
临床
纯合子
杂合子
Sickle cell syndromes
Hematology
Pathology
clinical
Homozygote
Heterozygote
