异常血红蛋白合并东南亚型α地中海贫血一例的家系分析及产前诊断

Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia

目的对1例异常血红蛋白合并东南亚型α地中海贫血（简称地贫）引起的重度贫血患者进行家系分析，并对该家系进行产前诊断。方法采集家系成员外周血进行血细胞分析及毛细管电泳进行血红蛋白分析；外周血及羊水采用裂隙聚合酶链反应以及PCR结合反向点杂交方法及DNA测序方法进行珠蛋白基因突变的鉴定。结果检测到异常血红蛋白（Hb Zurich Albisrieden）合并东南亚型α地贫引起的重型贫血1例，并对该家系进行了分析及产前诊断，检测到胎儿为异常血红蛋白（Hb Zurich Albisrieden）合并东南亚型α地贫患者。结论异常血红蛋白病合并地贫引起的贫血需要引起临床医师的重视，对高风险家庭进行产前诊断具有重要意义。

Objective Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α- thalassemia. Method Whole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis （CZE）, Gap-PCR, polymerase chain reaction-reverse dot blot （PCR-RDB） assay and DNA sequencing. Results Hb Zurich Albisrieden with α0-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α0-thalassemia. Conclusion Abnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.