Spectrum of thalassemia and hemoglobinopathies in a tertiary care diagnostic center

Context: Hemoglobinopathies and thalassemias are one of the most common genetic abnormalities prevalent in India and the Middle East. Aim: This study was performed to identify the distribution of abnormal types of hemoglobin (Hb) in a tertiary care diagnostic laboratory. Materials and Methods: An observational study was conducted in the Department of Hematology in a tertiary care diagnostic lab of South India to know the prevalence of hemoglobinopathies and thalassemia using high performance liquid chromatography (HPLC) as the diagnostic method. Results: A total of 518 samples were received over a period of 6-month. All 518 samples were processed for HPLC. 407 samples were normal and 111 samples showed abnormal Hb variants. Sickle cell trait (HbS heterozygous) was diagnosed in 56 (10.8%) cases, beta thalassemia minor in 40 (7.72%) cases, and sickle cell disease (HbS homozygous) in 12 (2.5%) cases, thalassemia major in 2 (0.38%) cases and 1 (0.2%) case of hereditary persistence of fetal hemoglobin. Conclusion: One of the best methods emerging for screening and detection of various hemoglobinopathies is HPLC. This study showed that CE-HPLC is a reliable tool in diagnosing the presence of abnormal Hb in suspected cases on routine hematology.