Antenatal screening for β thalassemia with mutation analysis in a tertiary care centre of Eastern India

Introduction: β-thalassemia poses a major public health problem in India. Reverse hybridization StripAssay® method is reported to be rapid, simple, reproducible and less expensive.Aim: The aim of the study was to detect occurrence of β-thalassemia carriers among the ante-natal mothers by Hb HPLC followed by detection of β-thalassemia mutations in antenatal mothers with β-thalassemia carrier state as well as borderline HbA2 value. The second step of this study was detection of β- thalassemia mutations in husbands of antenatal mothers who are β-thalassemia carriers as detected by Hb HPLC.Materials and Methods: Total 734 antenatal mothers were recruited in the study after obtaining informed consent. All were screened by Hb HPLC and mutation analysis done as per study protocol by reverse hybridization StripAssay®.Result and Conclusion: Among 734 antenatal mothers who were included in the study, 30 subjects (4.08%) were β- thalassemia trait (BTT) and 24 (3.27%) of them had borderline HbA2 value as per Hb HPLC done by Biorad D10™. Commonest mutant allele detected was IVS 1-5(G>C).