A Quick Look at G6PD Deficiency

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common human enzyme defect, affecting at least 400 million people worldwide. It is a sex-linked genetic disorder, predominantly affecting males. Children inherit this abnormality from their parents. Just like other common abnormal haemoglobin diseases such as sickle cell disease and beta-thalassaemia, G6PD deficiency has been linked geographically with the global distribution of malaria.

What happens in G6PD deficiency

In people with G6PD deficiency, the red blood cells do not make enough G6PD, or they make the enzyme with diminished activity. This enzyme is involved in the pentose phosphate pathway and is essential for the survival of red blood cells. It does so by protecting red cells from substances in the blood that could destroy them.

Without enough G6PD to protect them, the red blood cells break apart. This is called haemolysis. When many red blood cells are destroyed, a person can develop haemolytic anaemia. This can lead to tiredness, dizziness, jaundice and other symptoms.

Common triggers of haemolysis

Red blood cells that don’t have enough G6PD are sensitive to some medicines, foods and infections, including:

• Infections, such as bacterial and viral infections
• Some drugs (most often those containing sulphur)
• Fava beans
• Naphthalene balls (camphor)

What should parents do?

The best way to care for a child with G6PD deficiency is to limit exposure to anything that triggers symptoms. Children showing signs of haemolytic anaemia should be brought to the hospital, and over-the-counter medication should be avoided.

Get a G6PD card, which contains instructions and a list of medicines that could be a problem for a child with G6PD deficiency.

First published in the St. Elizabeth Catholic Hospital Newsletter, Maiden Edition (2022).