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Causes of G6PD Deficiency

Reviewed by medical experts · For informational purposes only

Introductory summary

Inherited X-linked enzyme gene variants cause G6PD deficiency; triggers such as fava beans, some drugs and infections set off red cell breakdown.

G6PD deficiency is an inherited condition. It is caused by a change (variant) in the gene that makes glucose-6-phosphate dehydrogenase, an enzyme that protects red blood cells from damage by oxidising substances. Without enough of this enzyme, red blood cells can break down (haemolysis) when they are stressed.

How it is inherited

  • The gene is on the X chromosome. Males have one X chromosome, so a single changed gene causes the deficiency. This is why it is far more common in boys and men.
  • Females have two X chromosomes. Most are carriers, but some have partial or full deficiency, because of how the X chromosomes are switched on in the cells.
  • It is passed from parents to children and is present from birth. You cannot catch it or develop it later.

Who is more affected

G6PD deficiency is among the most common inherited enzyme conditions worldwide. It is more frequent in people with African, Mediterranean, Middle Eastern and South and South-East Asian ancestry, and is found in certain communities in India. Carrying the variant offers some protection against malaria, which is why it is common where malaria occurs.

What triggers a problem

Having the deficiency does not mean you are always unwell. Most people have no symptoms until a trigger causes red cells to break down. Common triggers:

  • Certain medicines, such as primaquine, dapsone and some others
  • Fava (broad) beans
  • Infections
  • Naphthalene mothballs
  • Some chemicals and dyes

The Ayurvedic view

Ayurveda has no matching description of this enzyme condition. Conditions with pallor and yellowness, such as pandu and kamala, are sometimes compared with it, but this is a loose, interpretive comparison and does not explain the cause.

Why it matters

Knowing you have it lets you and your doctors avoid triggers and prevent serious episodes.

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