Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common enzyme disorder, causes severe neonatal jaundice and hemolytic crises. Prevention through education and simple treatments like phototherapy are key for managing G6PD deficiency complications.
Area of Science:
- Genetics
- Biochemistry
- Public Health
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent human enzyme disorder globally.
- It is a significant cause of neonatal jaundice, kernicterus, and life-threatening hemolytic crises.
- Complications arise from interactions with certain drugs and fava beans.
Purpose of the Study:
- To provide an update on Glucose-6-phosphate dehydrogenase (G6PD) deficiency.
- To review recent advances in characterizing G6PD deficiency.
- To discuss prevention strategies and implications of DNA-level discoveries.
Main Methods:
- Review of current literature and recent advancements.
- Analysis of diagnostic methodologies for G6PD deficiency.
- Examination of epidemiological data and community-based prevention strategies.
Main Results:
- G6PD deficiency characterization methods have evolved.
- Newer insights into hemolytic triggers are available.
- DNA-level advances offer new perspectives on the disorder.
Conclusions:
- Complications of G6PD deficiency are largely preventable through education and information.
- Neonatal jaundice due to G6PD deficiency is treatable with phototherapy.
- Community approaches and understanding genetic factors are crucial for managing G6PD deficiency.
Abstract:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. It can also lead to life-threatening haemolytic crises in childhood and at later ages, by interacting with specific drugs and with fava beans in the diet. The complications of G6PD deficiency can largely be prevented by education and information, and neonatal jaundice can be successfully treated by phototherapy, a cheap and simple approach suitable for use in primary health care. This update describes developments in the methodology for characterizing G6PD deficiency, recent knowledge of the factors that can cause haemolysis, community approaches for prevention of haemolytic crises and neonatal jaundice, and the implications of recent advances at the DNA level.