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

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

Genet Mol Res ; 15(2)2016 Jul 14.

Article in English | MEDLINE | ID: mdl-27421014

ABSTRACT

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.

Subject(s)

Hemoglobins, Abnormal/genetics , Adult , Amino Acid Substitution , Brazil , Female , Genetics, Population , Genotype , Hemoglobins, Abnormal/metabolism , Humans , Mutation , Point Mutation

ABSTRACT

Subject(s)

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