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

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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.

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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

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Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Licença CC