Screening and Diagnosis of hemolytic anemia in North Indian population: Challenges faced

Background: Hemoglobinopathies are a common group of inherited disorders responsible for a significant global healthcare burden in low- and middle-income countries (LMIC). Objective : This cross-sectional study aims to investigate epidemiological, clinical, and genetic aspects of hemolytic anemia in the antenatal population attending a tertiary care hospital in Delhi. Material and Method : A total of 7077 antenatal women were investigated over four years, revealing an overall prevalence of Beta Thalassemia Trait (BTT) of 4.55%. The screening algorithm involved complete blood count and High-Performance Liquid Chromatography (HPLC) for the women, followed by mutation testing using Multiplex ARMS PCR for four common mutations: IVS1-5, CD 41-42, CD 8-9, and Del 619 bp, additionally ARMS PCR, MPLA, and Sanger sequencing were also used. In cases where abnormal HPLC results were found, further testing of the husbands was done to guide counseling and decisions regarding prenatal testing. Results: IVS1-5 was identified as the most common mutation. CD 26 exhibited the lowest hemoglobin and highest HbA2 values among all mutations. The study underscores the challenges of using RBC indices, especially in cases with overlapping Nutritional Deficiency Anemia (NDA) and Hemolytic Anemia (HA). Similar challenges were observed with HbD and HbE due to their high MCV and MCH values, the algorithm for antenatal screening and diagnosis for LMIC was ascertained. Conclusion: The study provides data on the relative distribution of HA mutation in the antenatal population and emphasizes the importance of targeted screening strategies and genetic counseling to reduce the impact of hemoglobinopathies in the region effective.