Hemoglobin variants

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

J. V. Okumura, 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., 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., and Bonini-Domingos, C. R., Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report, vol. 15, p. -, 2016.

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.

Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes

A. R. Chinelato-Fernandes, Mendiburu, C. F., and Bonini-Domingos, C. R., Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes, vol. 5, pp. 1-6, 2006.

Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC ® CAC) of the a2-globin gene, resulting in the replacement of asparagine by histidine during the translation process. Ten blood samples from individuals suspected of being Hb Hasharon carriers were analyzed.

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