Article
Clinical phenotypes and molecular diagnosis in a hitherto interaction of Hb E/beta thalassemia syndrome (beta(E)/beta(-31), (A -->G)).
Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Nov 2005
Vathana Nassawee, Viprakasit Vip, Sanpakit Kleebsabi, Chinchang Worrawut, Veerakul Gavivann, Tanphaichitr Voravarn
Abstract excerpt
Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either alpha or beta thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles have been...
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