Assessment of Abnormal Hemoglobin in Family Members of Patients Diagnosed With Heamoglobinpathies by High Performance Liquid Chromatography

Introduction: Haemoglobinopathies and thalassemias are among the most common single-gene disorders worldwide, with significant geographical variation in prevalence. High-Performance Liquid Chromatography (HPLC) has emerged as a sensitive and specific method for identifying hemoglobin variants, offering superior detection capabilities over traditional techniques. This study focuses on utilizing HPLC for familial screening of hemoglobinopathies, aiming to identify and characterize these conditions within families of affected individuals. Material and Methods: This one-year cross-sectional observational study was conducted in the Department of Biochemistry at a tertiary care hospital in Gujarat. Family members of patients diagnosed with hemoglobinopathies were screened for abnormal hemoglobin variants using HPLC, complemented by peripheral smears, reticulocyte staining, and sickling tests. Blood samples were collected under aseptic conditions, and investigations included CBC analysis and specialized diagnostic tests for hemoglobin variants such as HbS, HbC, and HbF. Flexible arrangements ensured accessibility for family members, with sample collection integrated into hospital workflows or conducted at the 24×7 Central Pathology Lab. Data were statistically analyzed using SPSS, with a significance threshold of p < 0.05. Results: In our study, the majority of patients (34.6%) were in the SCT group, followed by BTT and SCD groups (26.9% each). Age distribution showed significant variation (p = 0.005), with most patients aged 20–40 years (49.2%) and no cases below 40 years in the STT group. Gender distribution was balanced, with no significant differences (p = 0.355). Religion showed significant variation (p = 0.001), with Hindus constituting a slight majority (52.3%). SCT had the highest asymptomatic cases (28), while SCD showed unique presentations like crisis and acute chest syndrome. Hemoglobin profiles differed significantly across groups, with BTM showing the highest HbF (86.95) and the Normal group the highest HbAo (84.92). Peripheral smear findings varied, with macrocytic hypochromic blood picture most prevalent in BTT and SCD groups, and dimorphic blood picture rare, observed only in the SCT group. Conclusion: Our study demonstrated the effectiveness of High-Performance Liquid Chromatography (HPLC) in diagnosing and differentiating hemoglobinopathies, with significant variations observed in clinical presentations, CBC parameters, hemoglobin variant profiles, and peripheral smear findings across groups.