Current Prevalence of Hemoglobinopathies in the Slovak Population (2020–2024)

Abstract Background Hemoglobinopathies, as a group of hereditary blood disorders that affect both the structure and production of hemoglobin, have traditionally been prevalent in areas with a high incidence of malaria, such as the Mediterranean region, parts of Africa, and Southeast Asia. Beta-thalassemia is one of the most common hemoglobinopathies, characterized by reduced or absent production of the beta-globin chain of hemoglobin, leading to anemia and other health complications. Despite the relatively low incidence of hemoglobinopathies in Slovakia, there is a need to improve the healthcare strategy, including early detection, genetic counseling, and comprehensive care, especially in relation to the increased migration of the population. Methods Patients suspected of having hemoglobinopathy were referred to local hematology clinics. Following positive biochemical tests and obtaining informed consent, their samples were sent for mutational variant analysis to the private laboratory Unilabs Ltd. Genetic diagnostics involved PCR with intronic primers flanking the relevant region, as well as direct sequencing using the ABI Prism 3130xl Genetic Analyzer. Results The most frequent beta-globin gene mutation variant in the Slovak population is the single nucleotide variant c.118 C > T (28.41%) which results in a premature termination codon and is classified as pathogenic beta-zero thalassemia. For the first time, we have detected single nucleotide variants of beta-globin gene c.79 G > A (p.Glu27Lys) and c.92 G > C (p.Arg31Thr) in Slovakia. Conclusion The expansion of genetic testing should be a priority due to its role in detecting and preventing the development of severe forms of hemoglobinopathies, which pose significant health, economic, and social issues.