Abstract

Contribution to the study of molecular defects of hemoglobin in the Brazilian population

The hemoglobinopathies belong to a diverse group of inherited disorders characterized by the reduced synthesis of one or more globin chains (thalassemia) or the synthesis of a structurally abnormal hemoglobin (Hb). Approximately 900 different hemoglobin variants characterized by mutations involving alpha, beta, gamma, and delta globin chains have been described worldwide. In Brazil, the high degree of ethnic admixture among native Americans and African and European descendants has produced elevated frequencies of Hb alterations. The aim of the present study was to characterize globin chain mutants based on classical laboratory tests and molecular analyses to supply detailed information about the Hb diseases to health professionals and to contribute to the knowledge of abnormal hemoglobins in Brazil.

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