Abstract

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

Author(s): 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 and C.R. Bonini-Domingos

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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