Hemoglobinopathies Amongst Antenatal Women in a Tertiary Care Centre, IGMC Shimla – A Cross Sectional Study

Hemoglobinopathies are among the most common inherited disorders globally. In India, thalassemia and sickle cell disorders are prevalent and pose serious maternal and fetal health risks during pregnancy. Objective: To determine the prevalence and hematological profiles of hemoglobinopathies among antenatal women attending a tertiary care hospital in Himachal Pradesh. Methods: A hospital-based cross-sectional study was conducted from August 2024 to April 2025 at IGMC Shimla, including 1085 antenatal women. Hematological indices were evaluated using a 5-part hematology analyzer. Women with anemia or microcytic indices were further assessed using HPLC. CBC, reticulocyte count, iron profile, Vitamin B12, and folic acid levels were evaluated. Results: Hemoglobinopathies were diagnosed in 24 women (2.2%): 22 had β-thalassemia trait (2.1%), one had sickle cell trait (0.1%), and one had a suspected β-chain variant (0.1%). Mean hemoglobin in BTT cases was 10.0 g/dL. All BTT cases showed low MCV and MCH. Mentzer's Index showed a sensitivity of 77.2% and specificity of 98.3% for detecting BTT. Coexistent iron deficiency was seen in two BTT cases. No cases of HbE, HbD-Punjab, or other variants were found. Conclusion: Hemoglobinopathies, especially β-thalassemia trait, are prevalent among antenatal women in Himachal Pradesh. Early antenatal screening using HPLC is crucial for timely diagnosis, genetic counseling, and prevention of severe hemoglobinopathies.