Alpha Thalassemia Carrier Detection a Diagnostic Approach

Abstract

Alpha-thalassemia is one of the most common single-gene disorders, and its carrier state often remains undetected due to nonspecific hematological findings. This study aimed to identify alpha-thalassemia carrier status among people being investigated for hemoglobinopathy in a tertiary care setting. A cross-sectional laboratory-based study was conducted from January 2023 to January 2024. Hemoglobin variant analysis reports by High Performance Liquid Chromatography (n = 384) were categorized as hemoglobinopathy (n = 129), inconclusive (n = 44), and normal (n = 211). Samples from the inconclusive and normal groups (n = 255) were further evaluated using complete blood count, peripheral smear, iron profile, and Sehgal Index (SI). Based on sample selection criteria, only ten selected samples were subjected to genetic analysis using the alpha globin strip assay. The frequency of hemoglobinopathies based on routine lab investigations was as follows: Beta thalassemia trait-23.4% (n = 90); HbS-5.72% (n = 22); HbD-2.08% (n = 8); HbE-1.56% (n = 6), and Beta thalassemia major-0.78% (n = 3). Only ten samples (2.6%) were subjected to genetic analysis, among which α^-3.7 deletional mutation (n = 3) and α2 Codon 19-point mutation (n = 2) were detected. These findings correspond to a carrier frequency of 3.3% in the selected subcohort. The present exploratory pilot study findings highlight the potential utility of targeted molecular testing for detection of alpha-thalassemia carriers, particularly in cases with inconclusive hematological findings, and require further exploration.