A.R. Chinelato-Fernandes (2004). Molecular characterization of globin chain mutants (Caracterização molecular de mutantes de cadeias globínicas). Genet. Mol. Res. 3(3): 446-447.

 

 

Over 800 hemoglobin variants have already been described, most of them resulting from changes in the sequence of nucleotides, generating replacements of amino acids in the polypeptide chain and leading to the formation of hemoglobin molecules with physical-chemical characteristics different from normal hemoglobins. In Brazil, the several ethnic origins and different degrees of miscegenation have resulted in the dispersion of genes previously characteristic of Negroid and Caucasian peoples. Many hemoglobin mutants are still partially characterized, whereas others remain without an accurate identification of the molecular defect. We analyzed 220 blood samples from different regions of the country. Read more. . .

 

Key words: Hemoglobinopathies, Hemoglobin variants, Laboratory diagnosis.