78例异常血红蛋白HbE纯合子的血液学表型分析

Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes

目的:分析HbE纯合子的血液学表型特征。方法:选取78例云南籍HbE纯合子患者,采用血常规指标和血红蛋白电泳分析血液表型,采用PCR-荧光杂交法检测地中海贫血常见基因突变类型,通过统计学分析比较成人和儿童、男性和女性的贫血比例和程度以及合并α地中海贫血后的血液学参数变化。结果:在HbE纯合子中,19例儿童有89.5%发生小细胞低色素贫血,其中轻度贫血占78.9%,中度贫血占10.5%;48例女性中有39.6%发生轻度贫血;11例男性HbE纯合子则未呈现贫血表型。HbE纯合子合并α地中海贫血后MCV和MCH较单纯HbE纯合子高(P<0.05)。结论:HbE纯合子临床表型具有较大异质性,与年龄、性别和是否合并α地中海贫血突变有关。儿童、成年女性比成年男性更易表现出轻到中度贫血,合并α地中海贫血后HbE病的红细胞小细胞低色素程度减轻。

Objective:To analyze the hematological characteristics of HbE homozygotes.Methods:Complete blood cells count and hemoglobin electrophoresis were used for phenotypic analysis of 78 cases with HbE homozygotes from Yunnan province,China.The PCR-fluorescence hybridization was used to detect the common gene mutation of thalassemia.The hematological indexes,including MCV,MCH,Hb,HbA2,HbF and HbE were statistically analyzed between groups with different sex,ages and compoundαthalassemia status.Results:In HbE homozygotes(HbEE),89.5%(17/19)children presented mild to moderate microcytic hypochromic anemia,and 10.5%of them presented moderate anemia.39.6%(19/48)of women with HbEE developed mild anemia,while 11 cases of male with HbE homozygotes were asymptomatic.The levels of MCV and MCH in HbE homozygotes increased by co-inheritance ofαthalassemia mutation.Conclusion:The clinical phenotype of HbE homozygote shows highly heterogeneous,which is relates with age,sex and co-inheritingα-globin genotypes.In Hb EE women and children are more likely to develop mild to moderate anemia.The microcytic hypochromic anemia degree is relieved when HbEE combined withα-thalassemia.