15例Hb Westmead复合东南亚缺失型α地中海贫血1分析

15 Cases of Hb Westmead Compounding Southeast Asia Deletion α-thalassemia-1

目的分析Hb Westmead(HbWS)复合东南亚缺失型α地中海贫血(地贫)1的临床和血液学特点,以更好指导临床遗传咨询。方法临床检查、血液学分析、血红蛋白分析和基因检测确诊的HbWS复合东南亚缺失型α地贫1患者15例,男6例,女9例,年龄2～34岁。以Cell Dyn1700全自动血细胞分析仪进行血细胞分析,以电泳法和高效液相法进行血红蛋白分析和血红蛋白F和血红蛋白A2定量检测,以Gap-PCR技术和反向斑点杂交技术分别检测缺失型和突变型α地贫基因。结果15例患者中只有6例有贫血,且均较轻,血红蛋白最低93g/L,平均红细胞体积和平均红细胞含量均低于正常,血红蛋白分析均无HbH区带,但均有较少量的HbBart’s,基因型为ααWS/--SEA。结论Hb WS复合东南亚缺失型α地贫1的临床特点有别于其它组合的HbH病,贫血较轻或不贫血。

Objective To study the clinical and hematological characteristics of Hb Westmead（HbWS）complex Southeast Asia deletion α-thalassemia-1（--^SEA/）and to direct clinical genetic counseling preferably.Methods 15 patiens with HbWS complex Southeast Asia deletion α-thalassemia-1（--^SEA/）were diagnosed by clinical examination,hematologic analysis,hemoglobin analysis and genetic testing,including six males and nine females,aged from 2 to 34 years old.Blood cells were analyzed by Cell Dyn 1700 automatic hemocyte analyzer.Hemoglobin,HbF and HbA2 were tested by electrophoresis and high performance liquid chromatography.Deletion and mutation of α-thalassemia were detected by Gap-PCR and reverse dot blot hybridization.Results Among 15 patients,only 6 cases had light anemia.The lowest Hb was 93 g/L,and their mean corpuscular volume and mean corpuscular hemoglobin were lower than average.They had less HbBart＇s,but no HbH zone,and the genotypes were αα^WS/--SEA.Conclusion Clinical characteristics of HbWS complex（--^SEA/）α-thalassemia-1 were different from other complicated HbH diseases,and there was light or no anemia.