Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados

AUTOR(ES)

Domingos, Ana L. B., Granzotto, Lucas A., Belini Junior, Edis, Oliveira, Thiago Y. K., Domingos, Ana C. B., Bonini-Domingos, Claudia R.

FONTE

Revista Brasileira de Hematologia e Hemoterapia

DATA DE PUBLICAÇÃO

2010-02

RESUMO

Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to direct the diagnosis of carriers and calculate the frequency from information stored in an electronic database. Using a Data Mining tool, we evaluated information on 10,960 blood samples deposited in a relational database. Over the years, improved diagnostic technology has facilitated the elucidation of suspected beta thalassemia heterozygote cases with an average frequency of 3.5% of referred cases. We also found that the Brazilian beta thalassemia trait has classic increases of Hb A2 and Hb F (60%), mainly caused by mutations in beta zero thalassemia, especially in the southeast of the country.

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