Vol. 8, Issue 2, Part A (2025)

Background: Hemoglobinopathies, including thalassemias and structural hemoglobin variants, are the most common monogenic disorders globally and represent a significant public health challenge in India. Antenatal screening is crucial for identifying carriers and couples at risk, enabling appropriate management and prevention strategies.

Aims: To determine the prevalence and spectrum of hemoglobinopathies among antenatal women attending a tertiary healthcare center in Ahmedabad, Gujarat, using High-Performance Liquid Chromatography (HPLC). Additionally, to evaluate the utility of Red Blood Cell (RBC) indices as initial screening indicators.

Materials and Methods: This retrospective observational study was conducted at the Department of Pathology, GMERS Medical College & Civil Hospital, Sola, Ahmedabad. Data from 560 antenatal women who underwent hemoglobinopathy screening between July 2023 and July 2024 were analyzed. Complete Blood Count (CBC) data, including RBC indices (MCV, MCH, MCHC, RDW), and HPLC results for hemoglobin fraction quantification (HbA, HbA2, HbF, and variant hemoglobins) were retrieved from laboratory records. Descriptive statistics were used to calculate prevalence rates and summarize hematological parameters.

Results: Out of the 560 antenatal women screened, 38 (6.79%) were found to have a hemoglobinopathy. Beta-thalassemia trait was the most common abnormality, detected in 20 women (3.57%). Sickle cell trait (HbAS) was identified in 13 women (2.32%). Other findings included HbS homozygous (Sickle cell disease) in 3 women (0.54%), Double heterozygous for HbS and HbD in 1 woman (0.18%), and HbD Punjab trait in 1 woman (0.18%). Hematological indices showed significantly lower MCV and MCH values in women with beta-thalassemia trait compared to those with sickle cell trait.

Conclusion: This study reveals a significant prevalence (6.79%) of hemoglobinopathies, primarily beta-thalassemia trait and sickle cell trait, among antenatal women in this tertiary care setting. The findings underscore the importance of routine antenatal screening using RBC indices followed by HPLC confirmation for early detection, appropriate counseling, and management, thereby contributing to the prevention of major hemoglobin disorders.