Oxidative stress unleashed: A case report of haemolytic crisis following respiratory illness in glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked recessive enzymatic disorder that compromises red blood cell protection against oxidative stress, often resulting in haemolysis. Affecting approximately 400 million individuals worldwide, it predominantly occurs in males. We report the case of a 3-year-old male child who presented with an acute onset of cola-coloured urine, fever and cough. On evaluation, he was found to have severe pallor, icterus and laboratory features consistent with acute haemolysis. Further investigations confirmed a diagnosis of G6PD deficiency. He was managed supportively with blood transfusions, hydration, antibiotics and folic acid supplementation. The child improved clinically and was discharged in stable condition. Subsequent family screening revealed that both the patient’s mother and younger brother were also G6PD-deficient. This case underscores the importance of early diagnosis and family screening in at-risk populations. It also highlights that while G6PD deficiency typically affects males, females, particularly heterozygous carriers, can also manifest significant clinical symptoms. This case highlights the importance of considering G6PD deficiency in paediatric patients presenting with acute haemolysis, especially in the context of infection.

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Publication Details

Journal
Karnataka Pediatric Journal
Published
2026-04-01
DOI
https://doi.org/10.25259/kpj_39_2025
Primary Topic
Neonatal Health and Biochemistry
Type
article
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article

Oxidative stress unleashed: A case report of haemolytic crisis following respiratory illness in glucose-6-phosphate dehydrogenase deficiency

Abhishek K. Phadke, Ali Kumble, Manju Jacob, T. M. Shadiya
Karnataka Pediatric Journal
Neonatal Health and Biochemistry
article

Oxidative stress unleashed: A case report of haemolytic crisis following respiratory illness in glucose-6-phosphate dehydrogenase deficiency

Abhishek K. Phadke, Ali Kumble, Manju Jacob, T. M. Shadiya
article en

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked recessive enzymatic disorder that compromises red blood cell protection against oxidative stress, often resulting in haemolysis. Affecting approximately 400 million individuals worldwide, it predominantly occurs in males. We report the case of a 3-year-old male child who presented with an acute onset of cola-coloured urine, fever and cough. On evaluation, he was found to have severe pallor, icterus and laboratory features consistent with acute haemolysis. Further investigations confirmed a diagnosis of G6PD deficiency. He was managed supportively with blood transfusions, hydration, antibiotics and folic acid supplementation. The child improved clinically and was discharged in stable condition. Subsequent family screening revealed that both the patient’s mother and younger brother were also G6PD-deficient. This case underscores the importance of early diagnosis and family screening in at-risk populations. It also highlights that while G6PD deficiency typically affects males, females, particularly heterozygous carriers, can also manifest significant clinical symptoms. This case highlights the importance of considering G6PD deficiency in paediatric patients presenting with acute haemolysis, especially in the context of infection.

Karnataka Pediatric JournalVol. 0
Indiana University Hospital (US)
Good health and well-being
Openalex Percentile: Top 5%
Neonatal Health and Biochemistry
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