Hemoglobinopathies by HPLC: A 3 Year Study of 106,277 Cases

Abstract

Introduction: Hemoglobinopathies and thalassemias are the most common single gene disorders in the world. World Health Organization figures estimate that 5% of the world populations are carriers of a potentially pathological hemoglobin (Hb) gene. The general incidence of thalassemia trait and sickle cell anaemia in India varies between 3-17% and 1-44% respectively3 but because of consanguinity, caste and area endogamy, some communities show a very high incidence, making the disease a major public health problem in our country. Cation exchange high-performance liquid chromatography (CE-HPLC) is one of the best methods for screening, detection, and identification of various hemoglobinopathies.
 Material &Method: A retrospective study was carried out from period of 2017 to 2019 with 106277 cases evaluated with an aim to identify various hemoglobinopathies seen in Indian population by high-performance liquid chromatography. Cases outside Indian geographical location were excluded from the study
 Result: A total of 18,936(17.82%) cases with abnormal haemoglobin variants was reported in the study with 35 difference variants across India. Northeast India reported maximum abnormal hemoglobinopathies (50.16%). Beta Thalassemia Trait was the most common abnormal variant found.Such a high incidence emphasises premarital and prenatal screening for prevention of dangerous effects of hemoglobinopathies in the population.
 Conclusion: CE-HPLC should be used for early detection and proper management of these haemoglobinopathies. The most common hemoglobinopathy observed in our study was Beta thalassemia trait followed by Sickle cell trait and then sickle cell disease. It was also observed that Northeast India had maximum abnormal hemoglobinopathies.