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

Revista Brasileira de Hematologia e Hemoterapia

Ana L. B. Domingos²  Lucas A. Granzotto¹  Edis Belini Junior¹  Thiago Y. K. Oliveira¹  Ana C. B. Domingos¹  Claudia R. Bonini-domingos¹ 

[1] ,Unesp Depto. de Química São José do Rio Preto SP

关键词: Data mining;    beta thalassemia trait;    bioinformatics;    genetic diversity;   

DOI  :  10.1590/S1516-84842010000100018

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC-ND   
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