CONTEXT:Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders.AIM:The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India.MATERIALS AND METHODS:A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The retention times, proportion of the hemoglobin (%) and the peak characteristics for all hemoglobin fractions were recorded. Molecular analysis of the beta-globin gene was carried out by DNA sequencing on eight cases.RESULTS:Total number of abnormal Hb fractions on cation exchange-HPLC (CE-HPLC) was seen in 12,131 (18.44%) cases. Beta-thalassemia trait was the predominant genetic Hb disorder accounting for 7377 cases (11.21%) of the total cases. This was followed by sickle cell trait (2.01%), sickle cell disease (1.59%), beta-thalassemia syndrome (0.80%), HbE trait (0.79%), and borderline HbA2 (0.51%). Molecular characterization of eight rare cases of hemoglobin variants by beta-globin gene sequencing identified three cases of Hb Beth Israel, two cases of Hb Hofu trait, and one case each of Hb J Cambridge, Hb Mizunami, and Hb Sherwood Forest.CONCLUSION:Superior resolution, rapid assay time, and accurate quantification make CE-HPLC suitable for the routine investigation of hemoglobinopathies.
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.
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