血红蛋白G病复合α地中海贫血2的家系分析

Pedigree analysis of the double heterozygote of hemoglobin G disease combined with alpha thalassemia 2

目的报道血红蛋白G(HbG)病复合α地中海贫血2的家系分布情况。方法采用外周血进行血液常规检查、Hb电泳、红细胞脆性及基因分析。结果发现患者及其父亲、2个胞姐、胞弟及侄儿为HbG复合-α4.2缺失型α地中海贫血2。其本人孕20周羊水脱落细胞检出胎儿为HbH病。结论该家系调查显示HbG复合-α4.2缺失型α地中海贫血2为常染色体显性遗传。同一家庭中父亲、姐弟、侄儿都出现异常HbG复合-α4.2缺失型α地中海贫血2改变。说明遗传率较高,应重视预防,进行婚配指导,以避免生育重症的婴儿,这对优生优育具有重要意义。

Objective To report the pedigree analysis result of the double heterozygote of hemoglobin G （HbG） disease combined with alpha thalassemia 2. Methods Blood routine examination, hemoglobin eleetrophoresis, erythrocyte fragility test and gene analysis were performed. Results The proband, her father, two sisters, brother and nephew were all diagnosed with the double heterozygote of HbG disease combined with alpha thalassemia 2. The proband＇s fetus was disagnosed with HbH disease by detection of cast-off cell in amniotie fluid. Conclusions The result of the proband＇s pedigree analysis shows that the double heterozygote of HbG disease combined with alpha thalassemia 2 is autosomal dominant inheritance. In same family, her father, sisters, brother and nephew all have the double hererozygote of HbG disease combined with alpha thalassemia 2, which shows that the disease has a high heredity rate. We should attach importance to and guide marriage for these patients, which is effective in preventing the birth of thalassemia major and has clinical significance in improving the population quality.