RESUMO
As hemoglobinopatias são um grupo heterogêneo de distúrbios caracterizados por alterações que envolvem genes estruturais e promovem a formação de moléculas de hemoglobinas com variações polimórficas características. Essas alterações, denominadas variantes, possuem freqüências diversificadas, de acordo com distribuição geográfica e/ou étnica. Avaliou-se o perfil hemoglobínico dos testes realizados no Alvaro Centro de Análises e Pesquisas Clínicas, durante o ano de 2004. Foram analisados 9189 testes, realizados por cromatografia líquida de alta performance (HPLC), provenientes de todas as regiões do Brasil. Das amostras analisadas, 81,02% apresentaram perfil hemoglobínico normal, enquanto foi observado alteração em 18,98%. Destas, os perfis hemoglobínicos identificados foram: Hb AS 9,11%; sugestivo de beta talassemia 5,50%; Hb AC 2,47%; Hb SS 0,76%; Hb SC 0,39%; Hb CC 0,20%; PHHF 0,19%; Hb AD 0,18%; e outras formas raras de hemoglobinas em 0,18%. Observou-se que houve predomínio da prevalência de Hb AS (traço falciforme) entre os testes com perfil hemoglobínico alterado. Ainda, houve uma freqüência relativamente elevada de testes sugestivos de beta talassemia.
The hemoglobinopathies are a heterogeneous group of haemoglobin disturbs characterized by the structural genes mutations which results in polymorphic haemoglobin molecules. These abnormal hemoglobins are called hemoglobin variants. Their frequencies vary accordingly to the geographic region and/or ethnic group distribution. Quantification of the various hemoglobinic structures was performed in 9189 samples from all over Brazil. The variants hemoglobin frequency and beta-thalassemia were analyzed. The normal hemoglobinic structure and its variants were detected by High Performance Liquid Chromatography (HPLC). We found 7445 (81.02%) samples presenting normal hemoglobin structure, Hb AA; whereas 1744 (18.98%) samples revealed some abnormality. The following characteristics were observed among the abnormal hemoglobins: Hb AS (9.11%); suggestive of beta thalassemia (5.50%); Hb AC (2.47%); Hb SS (0.76%), Hb SC (0.39%); Hb CC (0.20%); HPFH (0.19%); Hb AD (0,18%); and some other rare hemoglobins (0.18%). From our study, we were able to identify a major prevalence of sickle cell trait (Hb AS) among the various haemoglobin variants. In addition to that, we were able to identify a higher relative frequency of suggestive of beta-thalassemia tests in this population.