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Hb Évora [2-35 (B16), SerPro], a novel hemoglobin variant associated with an -thalassemia phenotype

From the Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa (SG, IP, LR, PF); Centro de Biopatologia, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa (AM, MTS); and Serviço de Pediatria, Hospital do Espírito Santo, Évora (MO); Portugal

Correspondence: Paula Faustino, PhD, Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Av. Padre Cruz, 1649-016 Lisboa, Portugal. Phone: international +351.217519234. Fax: international +351.217526410. E-mail: paula.faustino{at}insa.min-saude.pt

We report a novel mutation in the 2-globin gene, codon 35 (TC), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Évora. This variant seems to be responsible for the -thalassemia phenotype present in its carriers. It cannot be detected by conventional laboratory techniques, probably because of its highly unstable nature.

Key words: -thalassemia, Hb variants, globin genes, novel mutation.

This article has been cited by other articles:

				J.S. Waye and D.H.K. Chui Hb Evora [{alpha}2 35, Ser->Pro], a novel hemoglobin variant associated with an {alpha}-thalassemia phenotype Haematologica, May 1, 2007; 92(5): e68 - e68. [Full Text] [PDF]