地中海贫血的产前诊断及治疗进展

地中海贫血是一组常见的先天遗传溶血性疾病,是由于珠蛋白基因的缺失或突变导致一种或几种珠蛋白肽链合成障碍引起的慢性溶血。临床上常采用输血配合去铁治疗、脾切除、造血干细胞移植等治疗地中海贫血,近年来,应用分子诊断技术对高风险胎儿进行产前诊断,有效地控制了重症患儿出生,并且造血干细胞移植及基因治疗亦取得了显著进步。

The Prenatal Diagnosis and Treatment Progress in Thalassemia

Thalassemia is a group of common hereditary hemolytic anemia,chronic hemolysis caused by synthesis of globin chain disorders resulting from globin gene deletion or mutation.In clinical routine treatment,thalassemia is often used with blood transfusion and iron chelation therapy,splenectomy,hematopoietic stem cell transplantation methods.In recent years,molecular diagnosis method is applied in prenatal diagnosis of high-risk fetus with herriable disease,and it has effectively controlled the birth of thalasse...