Prevalence of Hb Variants and Haemoglobinopathies in a Tertiary Care Hospital: A Retrospective Cross-sectional Study

Hemoglobinopathies represent a collection of genetic conditions that influence the structure or synthesis of haemoglobin, the protein found in red blood cells that facilitates oxygen transport from the lungs throughout the body. This research proposal presents a study evaluating the prevalence of hemoglobinopathies and their significant haemoglobin variants within a specific population. The research will employ a cross-sectional study design, recruiting participants through community outreach efforts and healthcare facilities while obtaining informed consent. Data will be collected with the utmost precision and rigor, using advanced screening techniques such as high-performance liquid chromatography (HPLC), capillary electrophoresis, and molecular analysis. The gathered data will be processed to assess haematological parameters, including RBC, Iron Ferritin, TIBC, electrophoresis profiles (HbA, HbA2, HbE, HbF), MCV, MCHC, and PCV among individuals with hemoglobinopathies (HbE disease/trait, Beta thalassemia disease/trait, heterozygous HPFH, HbE-beta thal). They will examine variations relative to demographic factors. The expected results will have substantial clinical and public health consequences by enhancing genetic counselling, informing clinical decision-making, and strengthening public health initiatives.