1. Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report
- Author
-
Renan Garcia de Oliveira, Lidiane de Souza Torres, J. C. M. Herrero, E. V. Patussi, Edis Belini-Junior, Eliana Litsuko Tomimatsu Shimauti, Claudia Regina Bonini-Domingos, Danilo Gruenig Humberto da Silva, and Jéssika Viviani Okumura
- Subjects
Adult ,Hb Footscray ,Hb Hasharon ,Genotype ,Hemoglobins, Abnormal ,Biology ,03 medical and health sciences ,Global population ,0302 clinical medicine ,Genetics ,Humans ,Point Mutation ,030212 general & internal medicine ,Molecular Biology ,Hemoglobin variants ,Amino acid substitution ,General Medicine ,Hb Val de Marne ,Genetics, Population ,Amino Acid Substitution ,Mutation ,Female ,Hemoglobin ,Hemoglobin hb ,Brazil ,030215 immunology - 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.
- Published
- 2016