PREVALÊNCIA E CARACTERIZAÇÃO DE HEMOGLOBINOPATIAS EM DOADORES DE SANGUE DO HEMOCENTRO DO MARANHÃO

Abstract

Hemoglobinopathies are the most prevalent group of monogenic diseases worldwide and represent a significant public health concern in Brazil, particularly in the North and Northeast regions, where African ancestry has a strong influence. This study aimed to estimate the prevalence and to qualitatively and quantitatively characterize hemoglobin variants in blood donors attended by the public blood transfusion network of Maranhão throughout the year 2023. A total of 88,064 unique samples were analyzed using hemoglobin electrophoresis (ELH), high-performance liquid chromatography (HPLC), and, in selected cases, molecular biology techniques. The overall prevalence of hemoglobinopathies was 4.09%, with the sickle cell trait (Hb AS, 3.28%) being the most common, followed by Hb AC (0.59%) and β-thalassemia (0.08%). Additionally, 36 samples with Hb Korle-Bu were identified, including one homozygous case, along with less frequent variants such as Hb D-Los Angeles, Hb Camperdown, Hb G-Philadelphia, Hb A2', Hb Hope, and Hb O-Arab. A total of 18 cases showed coherance between Hb S and alpha-thalassemia deletions. Statistical analysis revealed a significant association between blood center and phenotype (p < 0.05), with adjusted residuals indicating higher concentrations of variants in the municipalities of Codó, Caxias, and São Luís. The application of molecular methods was essential to confirm rare variants, clarify uncommon combinations, and support the reclassification of phenotypes with overlapping electrophoretic and chromatographic profiles. These findings highlight the importance of an integrated diagnostic approach, in which molecular biology serves as a complementary tool to phenotypic screening. The results contribute to transfusion safety, epidemiological surveillance, and the development of public health policies tailored to the genetic landscape of the Maranhão population, characterized by high heterogeneity and diverse ancestry. Keywords: Hemoglobinopathies; Blood donors; HPLC; Hemoglobin electrophoresis; Molecular diagnosis.