Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados The profile of beta thalassemia obtained by data mining analysis in a database

• Main Authors: Ana L. B. Domingos, Lucas A. Granzotto, Edis Belini Junior, Thiago Y. K. Oliveira, Ana C. B. Domingos, Claudia R. Bonini-Domingos
• Format: Article
• Language: English
• Published: Elsevier 2010-02-01
• Series: Revista Brasileira de Hematologia e Hemoterapia
• Subjects: Data mining; beta thalassemia trait; bioinformatics; genetic diversity
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000100018

<abstract language="eng">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.