产前诊断少见的α-基因缺失型突变引起的水肿胎

Prenatal diagnosis of Hb Bart's disease caused by Co-inheritance of two different α~0-thalassemia defects in China

目的探讨1例Bart′s水肿胎的α基因突变类型。方法利用多种PCR方法对1例Bart′s水肿胎的α基因进行诊断。结果本例Bart′s水肿胎的致病机理为α基因的SEA缺失和THAI缺失的双重杂合子。结论α基因的THAI缺失也是引起Bart′s水肿胎的原因,在临床中应主意检测。

Objective： To clarify the undefined mutation of α-globin gene in the fetus with Hb Bait＇s disease. Methods： Multiple - PCR was used to detect the possible deletions of SEA and THAI in the α- globin gene. Results ： The fetus had Hb Bait＇s disease caused by co - inheritance of the - - SEA and the - - THAI deletions. Conclusion： It is important to develop simple, PCR - based screening tests for all of α^0- thalassemia determinants for routine evaluation of at - risk couples.