Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report.

J V Okumura,E L T Shimauti,D G H Silva,L S Torres, E Belini-Junior, R G Oliveira, E V Patussi, J C M Herrero,C R Bonini-Domingos

GENETICS AND MOLECULAR RESEARCH（2016）

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摘要

Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting alpha-1 and/or alpha-2 genes of the alpha-globin cluster (HBA1 and HBA2). In Brazil, the most prevalent alpha-chain Hb variant is Hb Hasharon. In this study, we present the first case of an Hb Val de Marne variant in the Americas, specifically in Brazil.

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关键词

Hemoglobin variants,Alpha-globin,HPLC

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