Abstract
<p>The hemoglobinopathies are included among the most common genetic diseases in the world. In Brazil, hemoglobinopathies are related to the diversity of racial backgrounds and the degree of interbreeding. The study focused on the prevalence of hemoglobinopathies using conventional and confirmatory laboratory tests in children from public schools in Ribeirão Preto-SP. The study involved the participation of 427 children between six and nine years of age. Hematologic evaluation, hemoglobin electrophoresis on cellulose acetate at alkaline pH, quantification of hemoglobin fractions by high performance liquid chromatography (HPLC) and detection of -α<sup>3.7</sup> deletion for α thalassemia by polymerase chain reaction were performed. The results of hemoglobin electrophoresis on cellulose acetate and HPLC of the children studied showed the presence of 30 children (7%) with hemoglobinopathies. Eleven children presented results indicating suspicion of S/β-thalassemia; their parents and/or siblings were evaluated and confirmed the presence of only Hb S. The analysis of deletion -α<sup>3.7</sup>to characterize α-thalassemias sampling performed on 207 participants identified 26 children (12.6%) with deletion -α<sup>3.7</sup>. Thus, 54 (12.6%) of the children studied present this genetic alteration. For the detection of α-thalassemias it is necessary to use confirmatory methods such as molecular analysis and evaluation of family members in doubtful cases to facilitate genetic counseling in families, in which deletion -α<sup>3.7</sup> is more frequent in Brazil.</p>
Highlights
The hemoglobinopathies are a group of inherited diseases that are classified based on the presence of structurally abnormal hemoglobin (Hb) such as hemoglobins S, C, D and E, and/or one or more globin chain disabilities, known as thalassemias (Clark, Thein, 2004; Henderson et al, 2009)
The results of hemoglobin electrophoresis on cellulose acetate and high performance liquid chromatography (HPLC) of the 427 children studied indicated the presence of 30 children (7%) with hemoglobinopathies, being 14 with increased Hb A2, consistent with the phenotype of β-thalassemia (β+ or β0); 11 with increased Hb A2 and the presence of Hb S, consistent with the phenotype of Hb S/β-thalassemia; 4 with the presence of Hb S carriers of sickle cell trait and 1 with the presence of Hb C, indicating heterozygosity for the Hb C disease (Table I, Figure 1)
The determination of the levels of Hb A2 of 11 participants with suspected Hb S/β-thalassemia was performed by HPLC and the fractions obtained by elution in electrophoresis on cellulose acetate
Summary
The hemoglobinopathies are a group of inherited diseases that are classified based on the presence of structurally abnormal hemoglobin (Hb) such as hemoglobins S, C, D and E, and/or one or more globin chain disabilities, known as thalassemias (Clark, Thein, 2004; Henderson et al, 2009). These pathologies are included among the most common genetic diseases in the world, with an estimated prevalence of 7% of the worldwide population (Melo-Reis et al, 2006; Manca, Masala, 2008). The interaction of two hemoglobin variants or a combination of a hemoglobin variant and a genetic alteration to thalassemia may still occur (Clark, Thein, 2004)
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