Browsing by Author "Meireles, Flora"
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- Delta Beta (δβ) thalassemia: Learning from External Quality AssessmentPublication . Miranda, Armandina; Correia, Helena; Reis, Ana; Miranda, Ana; Silva, Susana Pereira; Seuanes, Filomena; Meireles, Flora; Azevedo, Ana Paula; Faria, Ana PaulaIntroduction: 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.
- A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years old womanPublication . Reis, Ana; Coelho, Andreia; Faustino, Paula; Reichert, Alice; Meireles, Flora; Brito, Ana; Miranda, Armandina; Matos, Susana; Júnior, Esmeraldina