异常血红蛋白合并地中海贫血的基因诊断及血液学指标分析

Gene diagnosis and hematologic characterization of hemoglobin variants compounding thalassemia

目的对于异常血红蛋白合并地中海贫血的病例进行基因诊断并分析其血液学指标,为遗传咨询提供指导。方法对于血红蛋白电泳检测出的异常血红蛋白病例采用PCR-流式荧光杂交法及基因测序方法进行基因诊断,并对明确诊断的异常血红蛋白合并地中海贫血的病例进行回顾性血液学指标分析。结果在血红蛋白电泳分析检出的异常血红蛋白226例中,基因诊断出Hb Q-Thailand复合4.2缺失型HbH病4例,血红蛋白96～112g/L。检出Hb NewYork复合β地中海贫血3例,血红蛋白95～101g/L。检出HbE复合β地中海贫血4例,血红蛋白水平62～97g/L。检出HbE复合中国型Gγ+(Aγδβ)~0地贫2例,血红蛋白水平108～109g/L。结论不同异常血红蛋白合并地中海贫血的临床表型差异较大,是否需要产前诊断需要依据不同的异常血红蛋白来具体分析。

Objective To conduct gene diagnosis and investigate the hematologic characterization of common hemoglobin variants compounding thalassemia. Method PCR-flow cytometry fluorescence hybridization assay and gene sequencing were performed to the cases with hemoglobin variants,and analyzed the hematological datas of hemoglobin variants compounding thalassemia. Results In all 226 cases,4 cases of Hb Q-Thailand compounding HbH disease were detected,with hemoglobin 96~112 g/L.3 cases of Hb NewYork compounding β-thalassemia were detected,with hemoglobin 95~101 g/L.4 cases of HbE compounding β-thalassemia were detected,with hemoglobin 62~97 g/L.2 cases of HbE compounding Chinese Gγ+(Aγδβ) 0 -thalassemia were detected,with hemoglobin 108~109 g/L. Conclusions The phenotype are different in cases of hemoglobin variants compounding thalassemia.The analysis of clinical presentation can provide an effective genetic counseling.