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Molecular defects in Hb H hydrops fetalis
Author(s) -
CHAN VIVIAN,
WANYIN CHAN V.,
TANG MARY,
LAU K.,
TODD D.,
CHAN T. K.
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.d01-2017.x
Subject(s) - hydrops fetalis , genotype , prenatal diagnosis , fetus , genetics , medicine , gene , inheritance (genetic algorithm) , autosomal recessive inheritance , hemolytic anemia , biology , pregnancy
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 α 2 gene: at codon 30 (ΔGAG, Glu) and codon 59 (G → A, Gly → Asp) respectively, and a ζ‐α thalassaemia (thal) 1 or α 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.