G6PD screening

Overview

G6PD deficiency is a genetic condition that affects red blood cells. It means your body lacks enough of an enzyme called glucose-6-phosphate dehydrogenase, which helps protect red blood cells. When triggered by certain medicines, foods, or infections, red blood cells can break down too early. A G6PD screening test checks for this deficiency.

It is common around the world, especially in parts of Africa, Asia, the Mediterranean, and the Middle East.

It mainly affects males, but females can be carriers and sometimes have symptoms.

Symptoms

Common symptoms

• Jaundice (yellowing of the skin or eyes)
• Dark urine
• Fatigue
• Shortness of breath
• Pale skin

Symptoms in children

• Jaundice in newborns that may need treatment
• Crying or fussiness
• Less energy than usual

Symptoms in older adults

• More severe anemia (low red blood cells)
• Possible heart palpitations
• Dizziness

Causes

Main causes

• A change (mutation) in the G6PD gene that you inherit from your parents.

Risk factors

• Family history of G6PD deficiency
• Being of African, Asian, Mediterranean, or Middle Eastern descent
• Being male

When to see a doctor

See a doctor urgently if:

• If you notice jaundice or dark urine after taking a new medicine or eating fava beans
• If you have symptoms of anemia and cannot keep fluids down

Book a routine appointment if:

• If you have a family history and want to know your G6PD status before taking certain medicines
• For routine screening as part of newborn checks

Diagnosis

A simple blood test measures the level of G6PD enzyme in your red blood cells. This is usually done if you have symptoms or if there is a family history.

Tests that may be done

• Blood test for G6PD enzyme level
• Complete blood count to check for anemia

What to expect at your appointment

A healthcare professional will take a small sample of blood from your arm. The test is quick and safe. You may need to avoid certain foods or medicines before the test, but your doctor will tell you. Results usually come back in a few days.

Treatment

Treatment focuses on avoiding triggers that cause red blood cells to break down. There is no cure, but with careful management, most people can avoid serious problems.

Self-care at home

• Avoid fava beans and foods containing them
• Check with your doctor or pharmacist before taking any new medicines, including over-the-counter ones
• Tell healthcare providers about your deficiency before any treatment
• Stay hydrated and avoid infections when possible

Medical treatments

If you have an episode of red blood cell breakdown (hemolysis), your doctor may recommend stopping the trigger and providing supportive care such as fluids and oxygen. In severe cases, a blood transfusion may be needed. Always speak to your doctor about managing symptoms.

When is surgery considered?

No specific surgery is needed for G6PD deficiency itself. However, if you have surgery, your team must know about your condition to avoid certain anaesthetics or medicines.

Living with this condition

Most people with G6PD deficiency can live a full, active life. The key is knowing your triggers and avoiding them. Always inform healthcare professionals about your condition.

Lifestyle tips

• Carry a medical ID card or wear a bracelet that says you have G6PD deficiency
• Learn which medicines are safe and which are not – your doctor or pharmacist can give you a list
• Avoid mothballs (naphthalene) which can be a trigger

Diet and exercise

You do not need a special diet except to avoid fava beans. Exercise is generally fine, but if you feel very tired or short of breath, stop and rest.

Mental health and emotional wellbeing

Living with a genetic condition can be worrying, especially when it comes to avoiding triggers. It is normal to feel anxious sometimes. Talk to your doctor if you feel overwhelmed.

Prevention

You cannot prevent having the genetic condition, but you can prevent episodes by avoiding triggers.

Vaccines

Vaccines are generally safe, but always tell your vaccinator about your G6PD deficiency. Some vaccines may be avoided if they contain certain preservatives. Your doctor will advise.

Screening programmes

Screening is the test itself. It is often done in newborns in some countries, or before starting certain medications. It is also offered if there is a family history.

Complications

If left untreated

• Severe anemia needing blood transfusion
• Kidney damage from broken down red blood cells
• In newborns, severe jaundice that can cause brain damage (kernicterus) if not treated

Long-term outlook

With proper awareness and avoidance of triggers, most people with G6PD deficiency have a normal life expectancy and few health problems. It is a manageable condition.

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