Author(s): Gu YC, Landman H, Huisman TH
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Abstract The discovery of two different types of alpha globin gene quadruplication is reported. One with the alpha alpha alpha alpha (anti 3.7)/haplotype was present in four members of a Black family from Georgia, while a second with the alpha alpha alpha alpha (anti 4.2)/haplotype was observed in two members of an Indonesian family. Consistent clinical and haematological manifestations could be observed in these heterozygotes.
This article was published in Br J Haematol
and referenced in Journal of Molecular Biomarkers & Diagnosis