Molecular defects in Hb H hydrops fetalis

被引：84

作者：

Chan, V ^{[1
]}

Chan, VWY ^{[1
]}

Tang, M ^{[1
]}

Lau, K ^{[1
]}

Todd, D ^{[1
]}

机构：

[1] TSAN YUK HOSP,DEPT OBSTET & GYNAECOL,HONG KONG,HONG KONG

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1997年 / 96卷 / 02期

关键词：

Hb H hydrops; molecular defect; alpha thalassaemia;

D O I：

10.1046/j.1365-2141.1997.d01-2017.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases are due to co-inheritance of a 'non-deletion' defect affecting the alpha(2) gene: at codon 30 (Delta GAG, Glu) and codon 59 (G --> A, Gly --> Asp) respectively and a zeta-alpha thalassaemia (thal) 1 or alpha thal 1 genotype. These two non-deletion defects, unlike previously described cases, resulted in severe anaemia of the fetuses and emphasize the importance of performing prenatal diagnosis for these families.

引用

页码：224 / 228

页数：5

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