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 compound α thalassemia 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 of α thalassemia mutation.
Conclusion: The clinical phenotype of HbE homozygote shows highly heterogeneous, which is relates with age, sex and co-inheriting α-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 with α- thalassemia.
题目: 78例异常血红蛋白HbE纯合子的血液学表型分析.
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.