← All diseases

Disease Atlas / Disease detail

G6PD deficiency

An educational overview summarizing the definition, hemolysis risk, symptoms, diagnosis, and management principles of G6PD deficiency

G6PD deficiency · G-6-PD variant enzyme deficiency Anaemia · G-6-PD variant enzyme deficiency Anemia · G6PD · G6PD deficiency · glucose-6-phosphate dehydrogenase deficiency · glucosephosphate dehydrogenase deficiency · inborn error of glucose-6-phosphate dehydrogenase activity · inborn glucose-6-phosphate dehydrogenase activity disorder · rare inborn error of glucose-6-phosphate dehydrogenase activity

MONDO:0005775Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 6c5188cb4c56

Disease category
G6PD deficiency is a hereditary disease characterized by insufficient glucose-6-phosphate dehydrogenase activity involved in the oxidative stress response of red blood cells.
Key mechanism
It occurs due to genetic factors, and certain foods, drugs, bacterial/viral infections, and physical stress can cause red blood cell damage.
Main causes · related factors
A deficiency in G6PD activity reduces the ability to protect red blood cells from oxidative damage, which can lead to hemolysis.
Representative patterns
The representative clinical manifestation is hemolytic anemia, and symptoms such as pallor, jaundice, dark urine, fatigue, dyspnea, splenomegaly, and tachycardia may occur.
Individual differences
It is more common in males, and even with the same deficiency, symptoms may vary depending on exposure to triggers and individual enzyme activity levels.
Diagnosis
There may be no symptoms at all, but exposure to triggers can lead to acute hemolysis and symptoms of anemia.
Management
Diagnosis is centered on reviewing medical history and clinical presentation together with blood tests that evaluate G6PD activity.
Treatment/Research Status
Immediately after acute hemolysis or during periods of high reticulocyte counts, enzyme test results may not fully reflect the actual deficiency; therefore, the need for retesting must be determined in conjunction with the clinical context.
Read Evidence
The core of management is avoiding substances that can trigger hemolysis, identifying and treating triggers such as infections, and monitoring the degree of anemia.
Key Precautions
Current treatment focuses on removing triggers and providing supportive management for the resulting hemolytic anemia, rather than correcting the deficiency itself.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a Glance

G6PD deficiency is a hereditary disease characterized by insufficient glucose-6-phosphate dehydrogenase activity involved in the oxidative stress response of red blood cells.

The representative clinical manifestation is hemolytic anemia, and symptoms such as pallor, jaundice, dark urine, fatigue, dyspnea, splenomegaly, and tachycardia may occur.

How the disease works

It occurs due to genetic factors, and certain foods, drugs, bacterial/viral infections, and physical stress can cause red blood cell damage.

A deficiency in G6PD activity reduces the ability to protect red blood cells from oxidative damage, which can lead to hemolysis.

Variations in presentation among individuals

It is more common in males, and even with the same deficiency, symptoms may vary depending on exposure to triggers and individual enzyme activity levels.

The broad framework of diagnosis and management

There may be no symptoms at all, but exposure to triggers can lead to acute hemolysis and symptoms of anemia.

Diagnosis is centered on reviewing medical history and clinical presentation together with blood tests that evaluate G6PD activity.

Current status of treatment

Immediately after acute hemolysis or during periods of high reticulocyte counts, enzyme test results may not fully reflect the actual deficiency; therefore, the need for retesting must be determined in conjunction with the clinical context.

The core of management is avoiding substances that can trigger hemolysis, identifying and treating triggers such as infections, and monitoring the degree of anemia.

Current treatment focuses on removing triggers and providing supportive management for the resulting hemolytic anemia, rather than correcting the deficiency itself.

How to read clinical trials

ClinicalTrials.gov contains records of completed observational studies related to G6PD deficiency, but registration alone does not imply treatment efficacy or standard of care.

Points to verify during clinical consultations

In clinical practice, it is helpful to confirm a history of jaundice, anemia, and dark urine, the timing of symptom onset, exposure to infections, food, and drugs, family history, and previous test results.

Medical Guidance

This material is for educational purposes and is not intended as guidance for individual diagnosis or treatment.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.