G6PD Deficiency in Newborns: Symptoms, Diagnosis, and Treatment

What is G6PD Deficiency?

G6PD deficiency (Glucose-6-phosphate dehydrogenase) is a genetic disorder in which the body lacks the important enzyme G6PD in red blood cells. This enzyme deficiency leads to the premature breakdown of red blood cells, a condition called haemolysis. As a result, affected individuals may experience acute hemolytic anemia, where red blood cells break down faster than the body can replace them.

This disorder is more prevalent in males and is typically passed on from mothers, who are often asymptomatic carriers. Although the mother may not show symptoms, she can pass the G6PD deficiency gene to her sons, making this disorder more common in males.

Symptoms of G6PD Deficiency in Newborns

G6PD deficiency is commonly associated with haemolytic anaemia, a condition in which red blood cells are broken down at a rate exceeding the body's ability to replace them.

Symptoms of G6PD deficiency in newborns may include:

• Paleness
• Jaundice (yellowish skin and eyes)
• Dark-colored urine
• Poor feeding
• Breathing difficulties
• Lethargy
• Seizures

If your baby displays any of these symptoms, it's important to consult a doctor promptly for diagnosis and care. 

Diagnosis of G6PD Deficiency

A G6PD diagnosis is confirmed with a blood test that measures the levels of G6PD in the body. While this test is not routinely performed, it is essential when a doctor suspects G6PD deficiency, especially if symptoms like severe jaundice are present in newborns.

Treatment for G6PD Deficiency

Typically, G6PD deficiency treatment is not required, but substances that are known to cause harm should be avoided. Medications may be required to treat an infection if present. In some cases, transfusions may be needed.

These items should be avoided:

• Fava beans (also known as broad beans) – Known to trigger hemolytic episodes
• Naphthalene (moth balls)

These medications should be avoided:

• Antimalarial medicines such as chloroquine, primaquine, and pamaquine
• Aspirin
• Dapsone
• Phenylhydrazine
• Nitrofurantoin
• Nalidixic acid
• Sulphonamides such as co-trimoxazole
• Quinolones such as ciprofloxacin

It's essential to consult your doctor before administering any medication or herbal remedies to ensure they're safe for individuals with G6PD deficiency.

Causes of G6PD Deficiency

A genetic mutation in the G6PD gene on the X chromosome causes G6PD deficiency. It is inherited in an X-linked recessive manner, meaning:

• Males (with one X chromosome) are more commonly affected if they inherit the defective gene.
• Females (with two X chromosomes) must inherit the defective gene from both parents to show symptoms; otherwise, they are carriers.

Environmental triggers, such as infections, certain medications (e.g., antimalarials, aspirin), fava beans, and chemicals like naphthalene (mothballs), can cause hemolysis (destruction of red blood cells) in individuals with G6PD deficiency.

When Is a Blood Transfusion Required?

In rare cases, exchange transfusions or other treatments might be required to manage acute hemolytic anemia caused by G6PD deficiency, particularly if the condition is triggered by an infection or exposure to harmful substances.

Make an Appointment at Gleneagles Hospitals for G6PD Deficiency Care

If you suspect your baby might have G6PD deficiency or if you have concerns about its management, don’t hesitate to contact us. At Gleneagles Hospitals, we offer specialised Paediatrics services and expert care. Schedule an appointment today at your nearest Gleneagles Hospital to discuss your concerns and get the support you need.