Article
Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia.
Hemoglobin - 1 May 2017
Pedroso Gisele A, Kimura Elza M, Santos Magnun N N, Albuquerque Dulcinéia M, Ferruzzi Jucilane L H, Jorge Susan E, Costa Fernando F, Saad Sara T O, Sonati Maria F
Abstract excerpt
Hb Bristol-Alesha [HBB: c.202G>A; β 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the β-globin gene that leads to the replacement of valine by methionine in the corresponding position of the β-globin chain. The methionine residue is subsequently modified to aspartic acid [β67(E11)Val-Met→Asp], possibly by autoxidation mechanisms. This substitution...
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