Screening of G6PD deficiency in children presenting with anaemia and jaundice

Abstract

G6PD deficiency is one of the most common X-Linked hereditary disorder and enzymopathies in human that affect the erythrocyte metabolism with approximately 400 million people affected worldwide. G6PD deficiency most commonly manifests as either neonatal jaundice or acute haemolytic anaemia. About 400 different variants and ninety different mutations of this disease are known globally. The present study was conducted to screen children who are anaemic and jaundiced for this enzyme and to study the average haemoglobin and serum bilirubin levels in these children. Hundred children in various age groups were taken up. Their blood samples were analysed for G6PD enzyme, serum bilirubin and haemoglobin. Out of these 100 children, 52 were females and 48 were males. In our study 3 (3%) children (all males) were found to be G6PD enzyme deficient, age being 4 days, 3 days and 3 years. The commonest clinical presentation was jaundice followed by anaemia. Jaundice was found in 65 cases (65 %) with serum bilirubin levels above 1 mg/dl and anaemia was found in 55 cases (55 %). This study was undertaken in view of limited amount of data available for G6PD deficiency in children presenting with anaemia and jaundice in Jammu and surrounding regions, stressing on developing an early neonatal screening program to prevent significant morbidity and mortality in childhood.