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Molecular defects in Hb H hydrops fetalis.

作者信息

Chan V, Chan V W, Tang M, Lau K, Todd D, Chan T K

机构信息

University Department of Medicine, Queen Mary Hospital, Hong Kong.

出版信息

Br J Haematol. 1997 Feb;96(2):224-8. doi: 10.1046/j.1365-2141.1997.d01-2017.x.

DOI:10.1046/j.1365-2141.1997.d01-2017.x
PMID:9029003
Abstract

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 alpha2 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.

摘要

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