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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 understand the carrier of thalassemia gene in pregnant women with decreased mean corpuscular volume (MCV) and to guide the couples who carry the same type of thalassemia gene to carry out prenatal diagnosis and reduce the birth rate of intermediate and severe thalassemia. Methods: A total of 73 males and females with MCV <79 fl were selected to carry out the analysis of the common 3 kinds of deletional α thalassemia genes, 5 kinds of non-deletion α thalassemia genes and 17 kinds of β thalassemia genes. Results: 55 pregnant women with thalassemia genes, including 2 cases of HbH disease, 27 cases of α thalassemia 1, 10 cases of α thalassemia 2 and 15 cases of β thalassemia heterozygotes (including 1 case of hemoglobin E, 1 case of β thalassemia heterozygosity Homozygous α-thalassemia 1); 18 cases of husband carrying thalassemia gene, including 6 cases of α-thalassemia, 1,7 cases of α-thalassemia and 2,5 cases of β-thalassemia heterozygote (including 1 case of hemoglobin E); 10 couples All carry thalassemia genes, of which 7 pairs carry the same type of thalassemia gene, 2 pairs are α thalassemia 2 may not be prenatal diagnosis, the remaining 5 pairs of prenatal diagnosis. CONCLUSIONS: The prevalence of thalassemia gene in pregnant women with decreased MCV is extremely high. Both couples carrying the same type of thalassemia gene should be diagnosed prenatal to reduce the birth rate of intermediate and severe thalassemia.