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Background-The most prevalent inherited single-gene illnesses are known as hemoglobinopathies.Thorough detection of these conditions is crucial for preventing clinically severe hemoglobinopathies and thalassaemia major.Our goal was to find out how common thalassaemia and hemoglobinopathies were in both indoor and outdoor patients at a tertiary care hospital in Gujarat, India.Methods-A total of 2500 cases were studied retrospectively between January 2018 and April 2021.Following the collection of a clinical history and family history, an automated three-part cell counter produced the entire hemogram report.Using the beta thalassaemia short program, samples using Bio-Rad Variant II were subjected to high-performance liquid chromatography (HPLC).Results-Of the patients, 198 (7.92%) had aberrant haemoglobin fractions, while 2302 (92.08%) showed a normal Hb pattern.Among 105 patients (4.2%), the most prevalent anomaly was the β (beta) thalassaemia trait.Six instances (0.24%) had β thalassaemia major, and four cases (0.16%) had double heterozygous β thalassaemia and delta beta-thalassemia.Additional variations found include doubly heterozygous for HbC and thalassaemia and Hb Lepore, sickle-cell disease, sickle β thalassaemia, HbD-Punjab trait, Hb Iran trait, delta beta-thalassemia or hereditary persistence of foetal haemoglobin (HPFH) trait.Conclusion-HPLC is a great tool for accurately diagnosing hemoglobinopathies and quantifying different aberrant haemoglobin fractions.This allows for early patient management.
Manger et al. (Mon,) studied this question.
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