Cover Image

Screening of G6PD deficiency in children presenting with anaemia and jaundice

Purnima Gupta; Anu Gupta* and Tajinder Singh

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. 


Keywords


G6PD; Jaundice; Anaemia

Full Text:

PDF

References


WHO working group. G6PD deficiency. Bull WHO 67(1989):601-611.

WN Gibbs, Gray R, Lowry M. G6PD deficiency and neonatal jaundice in Jamaica. British Journal of Haematology 143 (1979): 263.

A Mehta. G6PD deficiency. Best Pract Res Clinical Haematology 13 (2000):21-38

E Jennifer. M.C. Frank, 2005. Diagnosis and management of G6PD deficiency. American Family Physician 72(2005):1277-82.

D Mohanty, Mukherjee MB, Colah RB. G6PD deficiency in India. Indian Journal of Pediatric 71(2004):525-529.

SR Joshi, Patel RZ, Patel HR, Sukumar S, Colah RB. High prevalence of G6PD deficiency in Vataliya Prajapati community in western India. Haematologial. 31.1(2001):57-60.

SA Doxiadis, Valaes T, Karaklis A, Stavrakakis D. Risk of severe jaundice in G6PD deficiency of the newborn. Lancet 1964:1210-12.

R Chalvam, Mukherjee MB, Colah RB, Mohanty D, Ghosh K. G6PD Namoru (208 T -- > C) is the major polymorphic variant in the tribal populations in southern India. British Journal of Haematology 136(2007): 512 – 13.

JS Kaeda, et al., A new G6PD variant, G6PD Orissa (44 Ala-- > Gly) is the major polymorphic variant in tribal populations in India. Am J Hum Genet 57(1995):1335-41.

A Marzban, Mosavinasav N. Correlation between hemolysis and Jaundice in G6PD deficient neonates. Acta Medica Iranica 47.5(2009):379-382.

E Atay, Bozaykut AQ, Ipek O. G6PD deficiency in neonatal indirect hyper bilirubinemia. Journal of tropical paediatrics 52.1(2006):56-58.




DOI: http://dx.doi.org/10.21746/ijbio.2015.11.0013

Refbacks

  • There are currently no refbacks.




Copyright (c) 2015 International Journal of Bioassays

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

International Journal of Bioassays is a member of the Publishers International Linking Association, Inc. (PILA), CROSSREF and CROSSMARK (USA). Digital Object Identifier (DOI) will be assigned to all its published content.