magnitude of beta-hemoglobinopathies through biomarkers among the selected tribes of dharmapuri, tamil nadu: a community-based cross-sectional study

Background: hemoglobinopathies present a growing challenge to global healthcare resources. these disorders are monogenic: caused by a single gene, and they are inherited in an autosomal recessive manner from parents to offspring. thalassemia and sickle cell disease are the primary forms of hemoglobinopathies. india has the highest prevalence of children affected by thalassemia globally, with a population of 1-1.5 lakh children with thalassemia, and every year, around 10,000-15,000 babies are born with this condition. this study attempted to estimate the disease burden of beta-hemoglobinopathies among the selected tribes residing in dharmapuri, tamil nadu, india. materials and methods: this cross-sectional study includes the data from 62 study participants belonging to the tribes residing in sitteri hills and balajangamanahalli – a village in the plains of nallampalli, dharmapuri. a semi–structured questionnaire was administered to collect socio–demographic details, and 5 ml of blood was collected for hematological tests: complete blood count (cbc), peripheral smear, and high-performance liquid chromatography (hplc). results: out of the 62 study participants, 43% (n=27) were anemic. chi-square test of association revealed significant associations between gender and anemia, mentzer’s index and anemia, and mentzer’s index and hba2. the present study has reported the disease burden of beta-hemoglobinopathies to be 37.1%, in which beta-thalassemia trait/minor was 24.19%, sickle cell beta-thalassemia, beta-thalassemia intermedia, beta-thalassemia major/intermedia, and sickle cell disease were 3.23% each. conclusion: family screening may be conducted to clarify the inheritance patterns of the disease, and genetic counseling should be offered to at-risk couples. to confirm the prevalence of hemoglobinopathies, genetic studies are required to confirm the type of mutations that cause hemoglobinopathies.