期刊
HEMOGLOBIN
卷 41, 期 3, 页码 203-208出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/03630269.2017.1340305
关键词
alpha 212 Patchwork allele; Brazilian population; congenital hemolytic anemia; Hb Bristol-Alesha; unstable Hb variant
资金
- State of Sao Paulo Research Foundation (FAPESP) [2014/00984-3, 2015/13710-1]
Hb Bristol-Alesha [HBB: c.202G>A; 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the -globin gene that leads to the replacement of valine by methionine in the corresponding position of the -globin chain. The methionine residue is subsequently modified to aspartic acid [67(E11)Val-MetAsp], possibly by autoxidation mechanisms. This substitution prevents normal non-polar binding of Val67 to the heme group, resulting in molecular instability and severe hemolysis. We identified Hb Bristol-Alesha (in the heterozygous state), as the cause of severe congenital hemolytic anemia in an 11-month-old girl of mixed (native Indian and European) ethnic origin from the Midwestern region of Brazil, whose parents were clinically and hematologically normal. The mutation on the -globin gene was found to have been coinherited with the 212 patchwork allele.
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