Antenatal screening for Thalassemia minor among conceiving females: A preventive measure

Abstract

Beta Thalassemia is one of the most common global health concerns worldwide. It affects a large population in Pakistan, too, thereby increasing the financial burden. Several screening procedures have been proposed to lessen the cost burden associated with Beta Thalassemia. This study focuses on studying the occurrence of beta-thalassemia trait among pregnant ladies, the commonest mutations among Beta Thalassemia Trait cases, and defining the hematological parameters to overcome this expensive burden.Blood was collected via venipuncture to carry-out CBC (Complete Blood Count) and H.B. (Hemoglobin) Electrophoresis is used to detect beta-thalassemia minor. In this study, the main CBC parameters to screen BTT included MCV (≤75fl), MCH (≤25pg), RBCs (≥4.50 million), and Hemoglobin (≤12g/Dl), whereas Hb electrophoresis confirmed the final diagnosis. The cut-off values for the final confirmation of BTT through Hb electrophoresis were >3.5% HBA2 and <95% HBA. Statistical tests used during the study included Mean and Standard deviation. Tetra-arm multiplex PCR was carried out to detect mutations. Thalassemia minor was detected in 15 out of 509 conceiving females present in our study cohort, thus overall incidence rate being 2.9%. Moreover, the most reliable parameters for screening beta-thalassemia minor included MCV, MCH, RBCs, and RDW. Iron Deficiency Anemia (IDA) didn't hinder the accurate diagnosis of the beta-thalassemia minor. Moreover, our data revealed the IVS 1-5(G-C) (4 samples) and FSc 8-9 (+G) (4 samples) to be the commonest mutations among carrier females. However, CD 30 mutation was found in 2 samples. However, Primers were designed for the most commonly reported mutations in Pakistan including F.Sc 8/9, IVS 1- 5, 619bp deletion, CD 16, and CD 30. Extensive screening strategies and detailed genetic counselling are needed to identify the risk and genetic epidemiology of Beta Thalassemia in Pakistan.