Year: 2024
Type: article
Abstract: Introduction: Hemoglobinopathies, a group of inherited genetic diseases affecting haemoglobin, are a global public health concern, with a prevalence of 7% among carriers worldwide. Conditions such as β-thalassemia and sickle cell anaemia are common in India, with significant regional and ethnic variability. High-Performance Liquid Chromatography (HPLC) has emerged as a reliable diagnostic tool for identifying haemoglobin variants. This study aimed to evaluate the prevalence of hemoglobinopathies in anaemic patients from Eastern Maharashtra. Materials and Methods: A retrospective study was conducted at a tertiary health centre in Eastern Maharashtra, analysing data from January 2019 to December 2023. 15,620 anaemic patients (Hb <11 g/dL) underwent HPLC testing using the BIO-RAD variant haemoglobin testing system. Demographic details and HPLC results were collected, and qualitative and quantitative data were statistically analysed. Results: The prevalence of hemoglobinopathies was 13.24%, with a female predominance (60.93%). Sickle cell trait (7.14%) was the most common hemoglobinopathy, followed by β-thalassemia trait (2.98%). Other variants were also identified, including the HbE trait (0.02%) and rare double heterozygous forms. The highest prevalence occurred in the 21–30 years age group (35.02%), with declining rates in older age groups. Conclusion: Hemoglobinopathies are significant contributors to anaemia in Eastern Maharashtra. HPLC proved effective for accurate and rapid diagnosis, underscoring the importance of systematic screening and genetic counselling in high-risk regions to reduce the burden of hereditary anaemias.
Authors: Shriram Chopade, Rajesh Kate, Snehal Tale, Aishwarya Mantri, Dilip Sarate
Institution: Government Medical College and Hospital
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6949452360
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