Abstract

Characterization of molecular hemoglobin c and beta thalassemia

Author(s): M.H. Lagares, M.S. Rabelo, C.G.B. Dias-penna, R.S. Mascarenhas, K.S.F. Silva and K.K.V.O. Moura

The hemoglobinopathies are a group of hereditary alterations prevalent in many parts of the world, but significantly affect the Brazilian population for its abundant miscegenation. These alterations in structural genes that cause the formation of hemoglobin variants, and/or regulatory genes, causing thalassemias. Currently, the number of identified abnormal hemoglobin has increased due to improvement in methods of analysis, however, many routine laboratories are not prepared for the correct identification of these changes. In the present study aimed to assess the prevalence of hemoglobinopathies by classical methods and perform the molecular characterization of mutations S, C, beta thalassemia IVS-110, IVS-1, IVS-6 and CD-39 by gene amplification using the PCR technique – AE. The molecular study used specific primers that bind promptly at the position of the mutated allele in position and the normal allele, and thus can perform gene allele specific amplification. We collected 200 samples of peripheral blood of patients in clinical laboratories at PUC-Goiás from July/2012 to December 2012. We observed two patients (1%) AC one (0.5%) AS, two (1%) with IVS-6 mutation and one (0.5%) IVS-6. The codon 39 and IVS-110 were not detected in any of the investigated patients. We concluded that our molecular methodology in the characterization of hemoglobin mutations is useful and it can be used to identify hemoglobinopathies

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