आणविक और आनुवंशिक चिकित्सा

The Laboratorial Diagnosis for G6PD Deficiency in Multiethnic Population

Abstract

De Souza Ondei L, Silveira LM, Bonini-Domingos CR, Orlandini LC, Leite AA, Ricci O, and Machado RLD

The deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the most frequent of the causes of hemolytic anemias by enzymopathies. Considering the high prevalence of these alterations and the miscegenated characteristic of the Brazilian population, the objective of this study was to investigate the frequency of this genetic affection, correlating them with the ethnic aspects and with the importance of the methodologies used for the routine laboratory diagnosis. A total of 544 peripheral blood samples collected after informed consent were analyzed from individuals aged 16-65, including 426 blood donors and 118 from individuals in an educational institution. The samples were submitted to the classic laboratory diagnosis methods for G6PD deficiency, with subsequent confirmation by complementary and specific methodologies. For the G6PD deficiency, a frequency of 3.86% was found, with 81.48% of the samples presenting the mutation A-202 (G> A), of African origin. The high frequency of G6PD deficiency reinforces the importance of investigating these hereditary conditions with due laboratory confirmation especially in mixed populations.