Demographic Profiling of Haemoglobinopathies-A Rzetrospective Study at Thalassemia and Sickle Cell Society, Telangana

Hemoglobinopathies are common inherited blood disorders, affecting 7% of the global population. In India, β-thalassemia, sickle cell disease, and other variants show varied prevalence across regions and ethnic groups due to genetic diversity and consanguinity. This study analyzed the demographic profile and prevalence of hemoglobinopathies among 4,336 patients registered at the Thalassemia and Sickle Cell Society (TSCS), Hyderabad. Of the 4,336 cases registered from 1998–2025, the highest were in 2023 (9.85%), with minimal contributions from 1998–2002 (each < 1.2%). Blood samples were evaluated using CBC and HPLC to assess RBC indices and hemoglobin fractions. Among 4,336 individuals, 57.7% were male and 42.2% female, with mean age of 16.24 years. Most patients were aged 10–20 years (39.58%) and about 39.4% reported consanguineous marriages. Most patients were from Telangana (71.2%) and Andhra Pradesh (23.8%). Hinduism was the predominant religion (76.4%), with Lambadi, Madiga, and Mala being the most represented castes. Beta-thalassemia major was the most prevalent disorder (59.96%), followed by sickle cell disease (22.3%) and sickle beta-thalassemia (9.1%). Other less common hemoglobinopathies included E beta-thalassemia, thalassemia intermedia, delta beta thalassemia and rare variants HbH disease and HPFH. These findings underscore the significant public health burden of hemoglobinopathies in Telangana. The high prevalence of β-thalassemia, highlights the urgent need for targeted genetic screening, counseling, and community-based awareness programs. A coordinated approach involving early detection, multidisciplinary care, and advanced therapies is essential to reduce disease impact. Institutions like TSCS exemplify a successful model of integrated care, combining diagnostics, treatment, and patient support.