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Updated: Mar 17, 2026

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Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report
J V Okumura1, E L T Shimauti2, D G H Silva1
1Laboratório de Hemoglobinas e Genética das Doenças Hematológicas, Departamento de Biologia, Universidade Estadual Paulista, São José do Rio Preto, SP, Brasil.
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.
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