G6PD Namoru in Heterozygous Twins—A Case Report

Abstract

Glucose-6-phosphate dehydrogenase deficiency remains the most prevalent enzyme deficiency in the world. The global prevalence is 4.9%. There are around 92 mutations detected and both hemizygous and heterozygous can be symptomatic.

Case Report:

Twin babies were born at 32 weeks gestation. Initially they had mild respiratory distress and settled. On day 3 of life, they had neonatal jaundice and received phototherapy for 36 h. On day 8 of life, the boy became symptomatic and diagnosed as Escherichia coli sepsis. On 9^th day, he developed jaundice and by day 10 of life he expired. G6PD was suspected but newborn screening showed normal G6PD reports. Girl was screened and had severe hemolysis requiring blood transfusion. Mutation analysis done revealed boy has homozygous mutation and girl had heterozygous mutation.

Discussion:

G6PD deficiency is a very common hemolytic genetic disorder, especially where malaria is endemic. It is more common in males and hence neonatal sepsis. They are several mutations detected. They can have severe hemolysis and severe sepsis with catalase positive organism. Boy had homozygous mutation and manifested as severe hemolysis and in turn sepsis. Girl had heterozygous mutation and manifested as hemolysis but not sepsis. During hemolysis period, G6PD levels can be falsely normal and so, to do Sanger sequencing analysis of G6PD levels.

Conclusion:

Newborn screening should be initiated by government in all areas The males who had sepsis or severe hemolysis during newborn period should undergo Sanger sequencing analysis of G6PD gene to avoid false negative normal levels.