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Glucose-6-phosphate dehydrogenase deficiency: not exclusively in males

Leonie van den Broek1, Evelien Heylen2, Machiel van den Akker3

  • 1Department of Pediatrics Queen Paola Children's Hospital Antwerp Belgium.

Clinical Case Reports
|December 17, 2016
PubMed

Insights

Glucose-6-phosphate deficiency (G6PD) is a common enzyme defect causing hemolytic anemia triggered by certain agents. This X-linked hereditary condition primarily affects males but can also present in females.

Area of Science:

  • Biochemistry
  • Genetics
  • Hematology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent human enzyme defect globally.
  • It is an X-linked hereditary disorder with significant clinical implications.

Observation:

  • Patients often exhibit neonatal jaundice.
  • Acute hemolytic anemia can be triggered by exposure to oxidizing agents.
  • The condition primarily affects males but must be considered in females.

Findings:

  • G6PD deficiency leads to red blood cell breakdown under oxidative stress.
  • The enzyme defect impairs the pentose phosphate pathway, crucial for red blood cell protection.

Implications:

  • Early diagnosis and avoidance of triggers are vital for managing G6PD deficiency.
  • Understanding the genetic basis aids in genetic counseling and carrier screening.
  • Increased awareness is necessary for appropriate clinical consideration in at-risk populations.

Keywords:
Acute hemolytic anemiaGlucose‐6‐phosphate deficiencyX‐linked inheritance

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