New Born Screening and mutational spectrum for Hemoglobinopathies & Thalassemia in Delhi, India

Background & Aim: Newborn screening (NBS) for hemoglobinopathies is an effective first step to reduce morbidity and mortality of all affected newborns. The screening allows early detection and intervention of abnormal hemoglobin disorders, to ensure the prompt institution of comprehensive medical care for affected newborns. As, hemoglobin disorders are considered to be a serious health problem by World Health Organization. This hereditary problem has raised global concern including the region of Mediterranean, Southeast Asia, Indian subcontinent. It is proposed to study the prevalence of hemoglobinopathies and Thalassemia mutations among newborn babies in Delhi population. Materials & Methods: During November 2021– March 2023, dried blood spot samples were collected from 130465 newborn babies and dried blood spot samples were used for assessing various hemoglobin variants among the newborns using automated Capillary electrophoresis system (Capillarys 2; Sebia, Evry, France). Analyses of common mutations of thalassemia in India were carried out using polymerase chain reaction-amplification refractory mutation system, end point polymerase chain reaction, and DNA sequencing methods. Results: Out of 130465 Newborn babies a total of 3739 were presumptive positive for Hemoglobinopathies, 2643 were presumptive positive for Thalassemia, 209 cases of HbSS (Sickle homozygous), 392 cases of HbE, 493 cases of Hemoglobinopahty C/D (HbC/D) were detected. Further, β-thalassemia HBB gene mutations revelaed 29 cases of IVS 1:5 (G>C) ; c.92+5 [G>C] followed by 21 cases of Cd.7 (A>T) [HbS], 19 cases of Cd. 41/42(-CTTT) ; c.126_129delCTTT, 18 cases of Cd. 26 (G>A) ; c.79 G>A [HbE], 18 cases of c.364 G>C [HbD PUNJAB], 11 cases of Cd./8/9 (+G) ; c.27dupG , 10 cases of Cd. 16(-C) ; c.51delC and 1 case of Cd.37 G>A. in our study group. Conclusions: Capillary electrophoresis method is found to be accurate to diagnose the hemoglobinopathies and thalassemia over HPLC method for better accuracy and mutations were confirmed by Sanger sequencing. Most of the babies screened in the study were monitored and follow-up the affected babies. Genetic counseling is advised for families those affected by sickle and other thalassemia conditions to create awareness among the parents and for the wellness of their offspring in future.