AN INHERITED RED BLOOD CELL ENZYME DEFICIENCY
G6PD Deficiency
An inherited deficiency of the G6PD enzyme that protects red blood cells from oxidative damage, causing episodes of haemolytic anaemia triggered by certain foods, medications or infections.
ABOUT THIS CONDITION
What is G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited enzyme disorder in which red blood cells are more susceptible to oxidative damage and breakdown (haemolysis). It is one of the most common enzyme deficiencies worldwide, more common in males due to X-linked inheritance. Most affected individuals are asymptomatic between episodes but develop sudden haemolytic anaemia when exposed to triggers, including certain foods (most famously fava beans), certain medications (some antimalarials, some antibiotics including sulfa drugs, and others), infections, and certain chemicals such as naphthalene (in mothballs). Newborns with G6PD deficiency may develop significant jaundice. Typical features during a haemolytic episode include sudden onset of tiredness, pallor, dark urine, jaundice, breathlessness and rapid heartbeat. Diagnosis is confirmed by a specific blood test measuring G6PD enzyme activity. There is no specific treatment for the underlying enzyme deficiency, but episodes are largely preventable through awareness and avoidance of triggers. Dr. Patnam Pravallika Reddy provides diagnosis, counselling and care at Lux Hospitals, Hyderabad.
SIGNS TO WATCH
Common Symptoms
Symptoms that need attention
WHY IT HAPPENS
Causes & Risk Factors
- Inherited X-linked enzyme deficiency
- More common in males than females
- More common in Mediterranean, African, Middle Eastern and South Asian populations
- Triggers: fava beans (favism)
- Triggers: certain medications including some antimalarials, sulfa antibiotics and others
- Infections — common trigger of haemolytic episodes
- Naphthalene (mothballs) and certain chemical exposures
CLINICAL DETAILS
KeyFacts
Specific blood test measuring G6PD enzyme activity
X-linked — affects mainly males; females can be carriers or mildly affected
Trigger avoidance and supportive care during episodes
May need treatment with phototherapy or exchange transfusion
Patients should be given a list of foods and medications to avoid
Available at Lux Hospitals, Hyderabad
HOW WE TREAT IT
Treatment Approach
Trigger Avoidance with Education
The most effective approach is education about specific food, medication and chemical triggers, providing patients with a list of substances to avoid, and prompt supportive care including hydration and blood transfusion during severe haemolytic episodes.
- 1
Consultation & Assessment
Dr. Pravallika reviews family history, ethnicity and any prior episodes, examines the patient and arranges G6PD enzyme testing.
- 2
Treatment Planning
A personalised plan is created focused on trigger avoidance, written guidance and emergency action planning.
- 3
Medical Management
Trigger avoidance, supportive care during haemolytic episodes, blood transfusion when needed and treatment of any underlying infection.
- 4
Recovery & Follow-up
Periodic review and education updates as new medications are prescribed, with family screening where appropriate.
AVAILABLE TREATMENTS
Treatment Options
Trigger Avoidance
Strict avoidance of known triggers — fava beans, specific medications, naphthalene and other oxidant chemicals — is the cornerstone of management.
Patient Education and Written List of Substances to Avoid
Patients are given a written list of foods, medications and chemicals to avoid, and informed about high-risk situations.
Supportive Care During Haemolytic Episodes
Acute episodes are managed with hydration, monitoring of haemoglobin and treatment of any underlying infection.
Blood Transfusion in Severe Episodes
Blood transfusion is given for severe haemolytic anaemia with significant symptoms or very low haemoglobin.
Family Screening and Genetic Counselling
Family members can be screened, particularly male relatives, and genetic counselling can be offered.
COMMON QUESTIONS
Frequently Asked Questions
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