Incidence of Thalassaemia in Jammu and Kashmir, India
2021
Roopali Jandial | Ishani Gupta
Introduction: Haemoglobinopathies are common genetic disorders of haemoglobin which occur due to abnormal production or structure of the haemoglobin molecule. They pose a considerable health problem in India and contribute significantly to morbidity and mortality. Cation Exchange-High Performance Liquid Chromatography (CE-HPLC) is a very simple and a precise method for quantifying HbA2, HbF and other variant haemoglobins. Aim: The present study was undertaken to study the spectrum of haemoglobinopathies in patients reporting to a Tertiary Health Care Centre in Jammu, India. Materials and Methods: Present study was a prospective study carried on 2356 samples from August 01, 2019-January 31, 2020. Sysmex XP 100 was used to obtain RBC indices and Biorad D10 was used to perform CE-HPLC. To identify the variant haemoglobins their retention times, percentages and peak characteristics are taken into consideration. Continuous variables were expressed as mean±SD. Categorical variables were expressed as percentages. Results: A total of 2356 cases were evaluated during the study period. Haemoglobinopathy was observed in 5.89% of the cases with β-thalassaemia trait was the most common abnormality (3% of cases). The most common variant haemoglobin encountered in the study population was HbD (Punjab) trait. Molecular analysis was advised in 14 cases with borderline increase in HbA2 levels to rule out silent mutations. Conclusion: A routine antenatal screening of total population is mandatory to detect the high frequency (5.89%) of haemoglobinopathies. An accurate diagnosis can be made in most of the cases by haematological parameters, CE-HPLC chromatograms, cascade screening for haemoglobinopathies and spouses of antenatal cases positive for haemoglobinopathy.
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