血红蛋白E及血红蛋白E复合β地中海贫血的临床分析

The clinical analysis of hemoglobin E and hemoglobin E combined with β-thalassemia

目的 :探讨血红蛋白E(HbE)及HbE复合 β地中海贫血 (β地贫 )的临床与实验诊断的关系。 方法 :应用红细胞参数检查、血红蛋白电泳、异常血红蛋白结构分析及 β地贫基因检查确诊本文病例 ,并作家系调查与遗传指导。结果 :HbE杂合子的血液学检查结果及理化性质检查表明其具有 β+ 地贫效应 ;HbE复合 β地贫患者的父母一方为HbE杂合子 ,另一方为轻型 β地贫患者 ,HbE复合 β+ 地贫患者临床贫血等症状比HbE复合 β°地贫轻 ,部分已婚育。结论 :血红蛋白电泳可对本病作出诊断 ,PCR扩增结合DNA芯片反向点杂交技术可快速对其作基因分型 ,红细胞参数有助于对本病的筛选 ,遗传指导是防治本病的重要措施。

Objective:To investigate the relationship between clinical appearance and experimental diagnosis of hemoglobin E (HbE) and hemoglobin E combined with β-thalassemia.Method:Red blood cells parameter analysis, hemoglobin electrophoresis, structural analysis of abnormal hemoglobin and gene examination of β-thalassemia were performed on the patients, and family lineage investigation and genetic teaching were applied.Result:Blood test results of HbE heterozygote and biochemical examination indicated that it has β+ thalassemia effects; one of the parents in patients with HbE combined with β-thalassemia was HbE heterozygote, the other was mild β thalassemia patient; the syndrome in patients with HbE combined with β+ thalassemia was milder than that in patients with HbE combined with β° thalassemia, some had married and given birth to children.Conclusion:This disease could be diagnosed by hemoglobin electrophoresis,PCR amplification combined with reverse dot hybridization could complete gene typing quickly; red blood cells parameter analysis could help screen this disease.Genetic teaching was the important measure of preventing this disease.