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.

G6PD deficiency blood test and diagnosis in Hyderabad
Inherited GENETIC CONDITION
Trigger Avoidance KEY TO MANAGEMENT
Variable Severity MILD TO SEVERE

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

Usually no symptoms between episodes Sudden onset of tiredness and pallor during episodes Dark urine (cola or tea-coloured) Jaundice — yellowing of skin and eyes Breathlessness and rapid heartbeat Abdominal or back pain in some episodes Significant jaundice in newborns

WHY IT HAPPENS

Causes & Risk Factors

CLINICAL DETAILS

KeyFacts

Diagnosis

Specific blood test measuring G6PD enzyme activity

Inheritance

X-linked — affects mainly males; females can be carriers or mildly affected

Treatment

Trigger avoidance and supportive care during episodes

Newborn jaundice

May need treatment with phototherapy or exchange transfusion

List of triggers

Patients should be given a list of foods and medications to avoid

Hospital

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. 1

    Consultation & Assessment

    Dr. Pravallika reviews family history, ethnicity and any prior episodes, examines the patient and arranges G6PD enzyme testing.

  2. 2

    Treatment Planning

    A personalised plan is created focused on trigger avoidance, written guidance and emergency action planning.

  3. 3

    Medical Management

    Trigger avoidance, supportive care during haemolytic episodes, blood transfusion when needed and treatment of any underlying infection.

  4. 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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