Laboratory Profile of Adult Hemoglobinopathies Picked Up During Routine Health Check in a Tertiary Care Hospital from South India

Background and aim: Hemoglobin (Hb) variants can clinically range from being completely asymptomatic to frequent requirement of transfusions. Some individuals may become aware of a variant only when a complete blood count (CBC), hemoglobin analysis or genetic testing is done for a different reason. These individuals are typically heterozygous for an autosomal recessive variant. A study was conducted to find out the different types of hemoglobinopathies in adults presenting to a tertiary care hospital for routine health check and its geographic distribution. Objective: 1) To find out the severity of anemia associated with different hemoglobinopathies. 2) To find the relevance of glycated hemoglobin (HbA1c) in the presence of various hemoglobinopathies. Methods: A retrospective cross-sectional observational study was done in 111 consecutive patients who were found to have hemoglobinopathies during routine health checks in a tertiary care hospital in South India from 2013 to 2021. Results: One hundred eleven patients were found to have abnormality in Hb electrophoresis and there was a male predominance (69 patients, 62.2%). Majority of patients with beta-thalassemia (28 patients, 63.6%) were from West Bengal. Both HbE trait (17 patients, 65.4%) and homozygous HbE (23 patients, 62.2%) were from Assam. There was statistically significant distribution (p value 0.0001). HbA1c detected Hb variant in those with HbE disease. Conclusion: Hemoglobinopathies constitute a huge hereditary burden and a serious healthcare concern in India. Hence, it is the need of the hour to pick up such asymptomatic cases and provide appropriate premarital and prenatal counseling. Also, it is essential to devise strategies other than routine HbA1c testing to guide blood sugar control