Abstract
BACKGROUND: Hemoglobinopathies and thalassemias are widely prevalent autosomal inherited recessive disorders of the structure and synthesis of hemoglobin, respectively. Given the regional heterogeneity of these disorders, this study was undertaken to elucidate the patterns and prevalence of these disorders from this region. METHODS: This was a tertiary-care hospital-based study in southern India over 4 years. Screening for hemoglobin (Hb) disorders was done using Hb high-performance liquid chromatography in patients based on initial screening of complete blood count parameters and for clinically indicated cases. RESULTS: A normal Hb HPLC pattern was observed in 404 (72.1%) and abnormal in 156 (27.9%) of 560 cases studied. The abnormalities seen were heterozygous β-thalassemia in 73 (46.8%), homozygous β-thalassemia in 19 (12.2%), heterozygous α-thalassemia in 7 (4.5%), HbH disease and heterozygous δβ-thalassemia in 1 (0.6%) each, sickle cell trait in 9 (5.8%), sickle cell anemia in 8 (5.1%), sickle β-thalassemia in 17 (10.9%), HbS+ Hb D-Punjab in 1 (0.6%), heterozygous HbE in 6 (3.8%), homozygous HbE in 2 (1.3%), HbE β-thalassemia in 3 (1.9%), Hb J-Meerut in 1 (0.6%), Hb Kirksey in 4 (2.6%), unknown α-hemoglobinopathy in 2 (1.3%), and Hb Lepore in 2 (1.3%) cases. Most of the patients were from the neighboring districts, and some were referred from other states. CONCLUSION: The most common hemoglobin disorders were heterozygous β-thalassemia in 73 cases (46.8%) and sickle hemoglobinopathy in 35 cases (22.4%). A heterogeneous group of hemoglobin disorders, including uncommon α-hemoglobinopathies, was found in the study population, likely due to the referral of patients from various regions.