Living with G6PD deficiency living

Overview

G6PD deficiency is a genetic condition in which the body does not have enough of an enzyme called glucose-6-phosphate dehydrogenase. This enzyme helps protect red blood cells from harmful substances. Without enough of it, red blood cells can break down too early. This is called hemolytic anemia, which can cause tiredness and other symptoms.

Yes, it is the most common enzyme deficiency in the world, affecting about 400 million people.

It mainly affects males because the gene is on the X chromosome. Females can be carriers and may have mild symptoms. It affects people of all ages, including newborns.

Symptoms

Common symptoms

• Most people have no symptoms at all.
• If a trigger causes red blood cells to break down, symptoms can include:
• Unusual tiredness or fatigue
• Pale skin
• Dark yellow or tea-colored urine
• Shortness of breath
• Rapid heartbeat
• Yellowing of the skin or eyes (jaundice)
• Back pain

Symptoms in children

• Yellowing of the skin or eyes (jaundice) in newborns
• Unusual tiredness or fussiness
• Pale skin
• Fever with an infection
• Dark urine

Symptoms in older adults

• Fatigue and weakness
• Shortness of breath with modest activity
• Dark urine
• Confusion or dizziness
• Rapid or irregular heartbeat

Causes

Main causes

• A change (mutation) in the G6PD gene that is passed down from parents.
• This genetic change makes red blood cells more fragile and likely to break down when exposed to certain triggers.
• Common triggers include:
• Fava beans (broad beans)
• Certain infections, like pneumonia or hepatitis
• Certain medicines, including some antibiotics and antimalarial drugs

Risk factors

• Family history of G6PD deficiency
• Being male
• Ancestry from Africa, the Mediterranean, the Middle East, or Southeast Asia

When to see a doctor

See a doctor urgently if:

• If you notice dark or tea-colored urine
• If you see yellowing of your skin or eyes
• If you feel unusually tired or weak
• If you have a rapid heartbeat or shortness of breath

Book a routine appointment if:

• If you have a family history of G6PD deficiency and want to be checked
• If your baby shows signs of jaundice in the first few days of life
• If you are starting a new medicine and are not sure whether it is safe for your condition

Diagnosis

G6PD deficiency is diagnosed with a simple blood test that measures the level of G6PD enzyme in your red blood cells.

Tests that may be done

• Blood test for G6PD enzyme activity
• Complete blood count (CBC) during a hemolytic crisis
• A genetic test if the blood test is unclear

What to expect at your appointment

The blood test is quick and straightforward. A needle is used to draw a small sample. Results are usually ready in a few days. During a hemolytic crisis, your doctor may also test your bilirubin levels and urine to check for red blood cell breakdown.

Treatment

There is no specific medicine that cures G6PD deficiency. Treatment focuses on avoiding triggers and managing symptoms when red blood cells break down. If you do have a hemolytic crisis, it is important to get medical help quickly.

Self-care at home

• Avoid fava beans and any foods or products containing them.
• Tell every doctor, pharmacist, and healthcare provider about your G6PD deficiency before taking any new medicine.
• Drink plenty of fluids, especially when you have an infection, to help your kidneys.
• Get rest when you feel tired, and seek help if symptoms worsen.

Medical treatments

For a severe hemolytic crisis, treatment may include intravenous fluids, oxygen, and blood transfusions if the anemia is severe. Your doctor will also treat any underlying infection or stop any medicine that triggered the episode. Always consult a healthcare provider for any medical treatment decisions.

When is surgery considered?

If you are having surgery, tell your surgeon and anaesthetist about your G6PD deficiency before the procedure. This helps them choose safe medicines and avoid anything that could trigger a reaction.

Living with this condition

Day to day, most people with G6PD deficiency feel completely normal. The key is knowing your triggers and being prepared. Learn to read food labels, tell your friends and family about your condition, and consider wearing a medical alert bracelet.

Lifestyle tips

• Keep a written list of foods and medicines you need to avoid, and show it to any new doctor or pharmacist.
• Avoid naphthalene mothballs and other products that may contain this chemical.
• Stay up to date with your routine health visits.
• Tell all healthcare providers, including dentists, about your condition.

Diet and exercise

A balanced diet and regular exercise are generally safe and encouraged. The only food you need to strictly avoid is fava beans. Other legumes, such as chickpeas and lentils, are usually safe, but check with your healthcare provider. Stay well hydrated, especially during exercise or in hot weather, to reduce stress on your body.

Mental health and emotional wellbeing

Living with a lifelong condition can sometimes cause anxiety, especially around infections, medicines, or hospital visits. It is normal to feel this way. Talk to your doctor about your concerns. If you ever feel in crisis or need urgent mental health support, reach out to your local mental health emergency service or call your local emergency number.

Prevention

G6PD deficiency itself cannot be prevented because it is inherited. However, you can prevent symptoms by avoiding known triggers, including fava beans and any unsafe medicines.

Vaccines

Routine vaccines are important and generally safe for people with G6PD deficiency. Always tell your healthcare provider about your condition before getting any vaccination.

Screening programmes

Some countries screen newborns for G6PD deficiency, especially in communities where the condition is common. Ask your healthcare provider if screening is available or recommended for you or your child.

Complications

If left untreated

• Severe hemolytic anemia that can be life-threatening
• Acute kidney injury from red blood cell breakdown
• Gallstones over time
• In newborns, kernicterus — a rare but serious form of brain damage caused by very high bilirubin levels

Long-term outlook

With the right awareness and care, people with G6PD deficiency lead healthy, active lives. Complications are usually temporary and treatable if medical help is sought quickly. There is every reason to be hopeful.

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