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Molecular defects in 2 examples of severe Hb H disease
Author(s) -
Trent R. J.,
Wilkinson T.,
Yakas J.,
Carter J.,
Lammi A.,
Kronenberg H.
Publication year - 1986
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1986.tb01734.x
Subject(s) - haplotype , alpha (finance) , disease , loss of heterozygosity , compound heterozygosity , medicine , genetics , gene , biology , genotype , mutation , allele , surgery , construct validity , patient satisfaction
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/ α thalassaemia haplotype and a nondeletional α thalassaemia defect (αα T'Karditsa ’/). The 2nd family requested antenatal diagnosis. The husband had mild nondeletional α thalassaemia. Initial investigations in the wife demonstrated unexpected gene mapping patterns. These have recently been shown to result from the (−α) Med 20.5 /haplotype.