MCV下降孕妇地中海贫血基因检测结果分析

Analysis on thalassemia gene detection result in pregnant women with decreased mean corpuscular volume

目的:了解平均红细胞体积(MCV)下降孕妇的地中海贫血基因携带情况,指导双方均携带同类型地贫基因的夫妇进行产前诊断,降低中间型和重型地贫胎儿出生率。方法:选择73对孕妇MCV<79 fl的夫妇一起进行国内常见3种缺失型α地贫基因、5种非缺失型α地贫基因和17种β地贫基因分析。结果:55例孕妇携带地贫基因,包括2例HbH病、27例α地贫1、10例α地贫2、15例β地贫杂合子(含1例血红蛋白E、1例β地贫杂合子复合α地贫1);18例丈夫携带地贫基因,包括6例α地贫1、7例α地贫2、5例β地贫杂合子(含1例血红蛋白E);10对夫妇双方均携带地贫基因,其中7对携带同类型地贫基因,2对均为α地贫2可不进行产前诊断,其余5对需进行产前诊断。结论:MCV下降孕妇地贫基因携带率极高,双方均携带同类型地贫基因的夫妇应进行产前诊断,从而降低中间型和重型地贫胎儿出生率。

Objective： To investigate the carrier rate of thalassemia gene in pregnant women with decreased mean corpuscular volume, direct the prenatal diagnosis in couples both carrying the same type of thalassemia gene, decrease the birth rate of intermedia or major thalassemia children. Methods： Pregnant women whose mean corpuscular volume lower than 79 fl were advised to detect thalassemia gene for themselves as well as their husbands. 73 couples fulfilled gene detection including 3 kinds of α thalassemia deletion mutation gene, 5 kinds of α thalassemia non - deletion mutation gene and 17 kinds of β thalassemia gene that were common in China. Results： Among 73 pregnant women, 55 cases were found thalassemia, including 2 cases of HbH, 27 cases of α - thalassemia 1, 10 cases of α - thalassemia 2, 15 cases ofβ - thalassemia beterozygote （ including 1 case of HbE）, 1 case of α - thalassemia and β - thalassemia. Among 73 husbands, 18 cases were found to be thalassemia gene carrier, consisting of 6 cases of α - thalassemia 1, 7 cases of α - thalassemia 2, 5 cases of β - thalassemia heterozygote （ including 1 case of HbE） . Ten couples were found to be both thalassemia gene carrier, 7 couples carried the same group gene. . Prenatal diagnosis were required in 5 couples excluding 2 couples carrying α - thalassemia 2. Conclusion： Carrier rate of thalassemia genc in pregnant women with lower MCV is very high. Gene detection for couples carrying the same kind of thalassemia gene directing for prenatal diagnosis can decrease the birth rate of intermedia and major thalassemia child.