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

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 Bra...

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Bibliographic Details
Published in:	Genetics and molecular research Vol. 15; no. 2
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	Brazil 01-01-2016
Subjects:	Adult Amino Acid Substitution Brazil Female Genetics, Population Genotype Hemoglobins, Abnormal - genetics Hemoglobins, Abnormal - metabolism Humans Mutation Point Mutation
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	1676-5680 1676-5680
DOI:	10.4238/gmr.15028294