Delta Beta (δβ) thalassemia: Learning from External Quality Assessment

Introduction: External Quality Assessment Programs (EQA) evaluate retrospectively the laboratory results, assessing their performance and competence. They play a key role in the continuous training process of the professionals, contributing not only for precise and accurate results, but also to a correct interpretation. δβ thalassemia results from a deletion in genes delta and beta of chromosome 11. Although its definitive identification demands genetic analysis, the hematologic evaluation allows the presumptive identification. The hematologic phenotype of heterozygotes for δβ-thalassemia is identic to β-thalassemia carrier, with microcytosis and hypochromia where the percentage of HbA2 is not increased and Hb F is usually high, varying from 5 to 20%. In 2018, the National External Quality Assessment Program (PNAEQ), sent a sample that simulated a carrier of delta beta (δβ) thalassemia, in order to evaluate the performance of the participants registered in the Hemoglobinopathies Program. Objective: Evaluate the performance of PNAEQ’s participants in the quantification of HbA2 and HbF, and interpretation of results of a sample that simulated an δβ-thalassemia carrier.

Keywords

Delta Beta (δβ) Thalassemia Hemoglobinopathies External Quality Assessment EQA Avaliação Externa da Qualidade AEQ Programa Nacional de Avaliação Externa da Qualidade PNAEQ Patologias do Glóbulo Vermelho

URI

http://hdl.handle.net/10400.18/7870

Publisher

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Collections

DEP - Posters/abstracts em congressos nacionais
DPSPDNT - Posters/abstracts em congressos nacionais

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