Spectrum of Hemoglobinopathies and Thalassemias Diagnosed on Hplc in A Tertiary Teaching Hospital of Northern India

Introduction: Hemoglobinopathies constitute an increasing global health burden. They are the most common genetic disorders in the World. As per WHO, the incidence is highest in the Middle East and Indian subcontinent. Various hemoglobin variants including HbF and HbA2 can be screened using a single, highly excellent method with the use of high performance liquid chromatography (HPLC). Aim: The present study was carried out to diagnose hemoglobinopathies and thalassemias by the use of HPLC in a tertiary care teaching hospital of Northern India. Materials and Methods: A prospective study of 22 months duration was conducted including 100 patients screened for the presence of thalassaemia or any other hemoglobin structural variants. All cases of microcytic hypochromic anemia (MCV <80 fl, MCH <27 pg) not responding to conventional treatment and with clinical suspicion of hemoglobinopathy were included in the present study. Patient witha history of recent blood transfusion of less than 3 months duration were excluded from the study. Results: A total of 100 cases (57 males and 43 females) were included in the present study. The age group of patients ranged from 2 months to 40 years. Complete blood count, Red blood cell indices and peripheral blood examination were done in all the cases. Out of the 100 cases, 51 (51%) cases displayed abnormal hemoglobin fractions on HPLC of which. 42 (42%) cases were diagnosed as thalassemia trait, 4 cases (4%) as beta thalassemia major (HbF more than 75%), 2 cases as HbE (2%) and, 3 cases as HPFH (3%). 49 cases had a normal HPLC pattern. Conclusion: HPLC is a rapid, accurate and useful method for diagnosing hemoglobinopathies. It serves as an important tool in diagnosing beta thalassemia traits especially in developing countries like India, where, the resources for detection of hemoglobinopathies are limited. Early diagnosis may help in proper and specific management.