Prevalência e caracterização molecular das hemoglobinopatias em doadores de sangue aptos no estado de Mato Grosso do Sul

Abstract

Hemoglobinopathies represent the most prevalent genetic diseases in the world. Although most abnormal hemoglobins (Hb) do not cause significant phenotypic changes, some variants can result in different clinical manifestations, depending on the type of inheritance and genetic and/or environmental interactions. The objective of this study was to analyze the prevalence and profile of hemoglobinopathies in eligible blood donors in the state of Mato Grosso do Sul, using electrophoretic, chromatographic and molecular methods, as well as to critically discuss their ethical, social and public policy implications, with a view to improving screening and genetic counseling in blood donation. First, a theoretical-reflective study was carried out, based on a literature review and critical analysis of public policies, technical guidelines and ethical implications related to the screening of hemoglobinopathies in blood donation. The work entitled "The invisibility of hemoglobinopathies in blood donation: incidental findings and the implications for genetic counseling", discusses the strategic role of blood banks in the detection of abnormal hemoglobin, limitations of current laboratory screening, potential for improving genetic counseling, and the social and emotional impacts of this practice, with emphasis on the Brazilian context. Subsequently, another manuscript entitled "Molecular characterization of hemoglobinopathies in fit blood donors in the state of Mato Grosso do Sul" was constructed, which consists of an observational, cross-sectional, descriptive and quantitative study, covering all fit blood donors assisted by the Hematology and Hemotherapy Center of Mato Grosso do Sul (Hemosul). A total of 62,577 samples were analyzed by hematological and biochemical methods, complemented by high-performance liquid chromatography and specific molecular analyses. The study characterized 977 (1.56%) abnormal hemoglobin profiles, distributed in 21 distinct variants. The most frequent form was Hb AS (77.28%), followed by Hb AS associated with alpha-thalassemia (9.52%), and Hb AC (7.57%), in addition to rare variant forms, such as Hb AF (PHHF), Hb AD-Los Angeles, Hb A/Porto Alegre, Hb A/G-Philadelphia, delta chain variants, and Hb SE. The regional distribution revealed the highest proportional prevalences in the macro-regions of Corumbá, followed by Campo Grande, Dourados and Três Lagoas, evidencing relevant regional variations. These findings show significant genetic diversity among donors, highlighting the importance of expanded screening and genetic counseling strategies to increased transfusion safety and formulate public prevention policies.

Keywords: Genetic Counseling 1. Sickle Cell Anemia 2. Thalassemia 3. Blood Donation 4. Nursing 5.