Molecular defects in Hb H hydrops fetalis.
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.
Chan
V
V
University Department of Medicine, Queen Mary Hospital, Hong Kong.
Chan
V W
VW
Tang
M
M
Lau
K
K
Todd
D
D
Chan
T K
TK
D017353:Gene Deletion; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods
D005914:Globins; D006447:Hemoglobin H