Molecular defects in 2 examples of severe Hb H disease
- 24 April 2009
- journal article
- research article
- Published by Wiley in Scandinavian Journal of Haematology
- Vol. 36 (3) , 272-279
- https://doi.org/10.1111/j.1600-0609.1986.tb01734.x
Abstract
Severe Hb H disease presented in unexpected ways in 2 families of Greek origin. In 1, Hb H disease led to neonatal death. The underlying molecular defect was double-heterozygosity for the --Med/.alpha. thalassaemia haplotype and a nondeletional .alpha. thalassaemia defect (.alpha..alpha.T''Karditsa''/). The 2nd family requested antenatal diagnosis. The husband had mild nondeletional .alpha. thalassaemia. Initial investigations in the wife demonstrated unexpected gene mapping patterns. These have recently been shown to result from the (-.alpha.)Med 20.5/ haplotype.Keywords
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