Assessment of Hemoglobinopathies in Antenatal Females

Hemoglobinopathies, a group of inherited disorders characterized by abnormal hemoglobin (Hb) production or structure, pose significant health risks during pregnancy. This study aims to assess the prevalence of hemoglobinopathies among antenatal females and establish guidelines for effective screening and management.

An observational cross-sectional study was conducted over 18 months at Dr DY Patil Medical College, Hospital and Research Centre, involving 800 antenatal women. Demographic data, medical history, and blood samples were collected for complete blood count (CBC) and Hb electrophoresis. Statistical analysis was performed using SPSS software.

A study evaluated 800 antenatal females aged 20-39 years, with an almost equal distribution between age-groups 20-29 (49.23%) and 30-39 (50.77%) years. Peripheral blood smear analysis revealed 97.69% had microcytic hypochromic anemia, indicating a high prevalence of iron deficiency, while 2.31% exhibited normocytic normochromic anemia. Hb electrophoresis identified hemoglobinopathies in 1.72% of cases, with 1.53% cases identified as beta-thalassemia carriers, and 0.19% with sickle cell trait (SCT). Among the abnormal cases, beta-thalassemia (55.56%) was found to be the most common, followed by HbE heterozygous (11.11%), HbE homozygous (11.11%), and double heterozygous (11.11%), with a single case (11.11%) of sickle cell disease (SCD). Beta-thalassemia was the most prevalent hemoglobinopathy. CBC parameters showed significant variations among hemoglobinopathy types, with analysis of variance (ANOVA) p-values of 0.0001 for Hb, mean corpuscular volume (MCV), and mean corpuscular Hb. These findings underscore the significance of microcytic hypochromic anemia and the relatively low prevalence of hemoglobinopathies in the antenatal population.

The low prevalence of hemoglobinopathies in this region contrasts with higher rates reported elsewhere in India, indicating potential regional genetic factors. The predominant finding of microcytic hypochromic anemia underscores the urgent need for targeted interventions addressing iron deficiency in antenatal care.

This study emphasizes the importance of routine screening for hemoglobinopathies in pregnant women, particularly in regions with known genetic predispositions. Increased awareness and follow-up molecular analysis are recommended for accurate diagnosis and management, ultimately improving maternal and fetal health outcomes. Future research should expand to larger, multicentric studies to further validate these findings.