Sadini Upekha¹, Mihira Manamperi¹, Thilini somarathne², Chathuri Chapa bandara¹, Prabhashwar Kularathne¹, Minidi Perara ¹
1- Paediatric Department, Sri Jayewardenepura General Hospital, Sri Lanka
2- Medical Research Institute, Sri Lanka
Abstract Body
Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common red cell enzymopathy worldwide leading to intravascular haemolysis in children. The enzyme, located in the hexose monophosphate pathway , generates NADPH to protect red blood cells from oxidative damage. The condition is X-linked, predominantly affecting males, andpredisposes to haemolytic anaemia upon exposure to oxidative stress. We reporting a case of G6PD deficiency child who presented to us with haematuria following two successive viral illness.
Case presentation: Six year old boy presented with haematuria urine for 1 day duration whilehaving fever and respiratory symptoms for 4 days duration. He was on routine respiratory medications and no prior history of herbal medication use. He had bronchial asthma and exaggerated neonatal jaundice requiring triple phototherapy . Examination revealed pallor, jaundice without hepatosplenomegaly . Investigations showed anaemia (Hb 7 .2 g/dL) and other cell lines were normal. Peripheral smear showed bite cells. The coombs test was negative. Biochemistry revealed elevated indirect bilirubin, Lactate dehydrogenase and reticulocyte count with positive urine haemoglobin. He required a blood transfusion followed by folic acidtherapy . His Hb level gradually improved to 11.5 g/dl. Two weeks later he presented with another febrile illness with haematuria where his Hb drop up to 8 g/dl, picked up spontaneously . Positive Brewer’s test suggested G6PD deficiency .
Discussion &
Conclusion: This haemolytic episodes were most likely triggered by infections. This case highlight the importance of considering G6PD deficiency in acute haemolytic anaemia associated with febrile illnesses which is uncommon in the available literature.