G6PD deficiency — Mediterranean variant
A G6PD Mediterranean variant has been detected.
You have the Mediterranean version of the G6PD DNA change — a known cause of red-blood-cell sensitivity to certain drugs and foods.
G6PD deficiency causes red blood cell breakdown (hemolysis) when exposed to specific drugs (some antimalarials, sulfa drugs, rasburicase) and to fava beans. The Mediterranean variant is more severe than the African A-/A+ forms. Knowing this status can prevent serious adverse drug reactions.
G6PD deficiency means your red blood cells can break down (haemolysis) when you take certain medicines — including some anti-malaria pills, some "sulfa" antibiotics, and the gout drug rasburicase — or when you eat fava beans. The Mediterranean version is one of the more severe forms. Telling clinicians about this can prevent serious reactions to common drugs.
What this means
G6PD enzyme protects red blood cells from oxidative damage. Hundreds of variants exist with widely different severities. The Mediterranean variant (S188F) substantially reduces enzyme activity. Females (XX) showing one allele are usually mild carriers; males (XY) with the variant are typically symptomatic. Triggering substances include some antimalarials (primaquine, tafenoquine), some antibiotics (dapsone, some sulfonamides), the gout drug rasburicase, and fava beans (favism).
G6PD is an enzyme that protects your red blood cells from oxidative stress. There are hundreds of different versions of this gene, ranging from harmless to seriously deficient. The Mediterranean version substantially reduces enzyme activity. The gene sits on the X chromosome: for women with one copy of the change, effects are usually mild, but men with the change typically have full deficiency. Triggers that can cause your red blood cells to break down (haemolysis) include some anti-malaria drugs (primaquine, tafenoquine), some antibiotics like dapsone and certain sulfa drugs, the gout medicine rasburicase, and fava beans — this last is where the name "favism" comes from. Avoiding these triggers prevents the problem.
Caveats
- Hemolysis only occurs when exposed to a trigger; many carriers go decades without symptoms.
- Inform clinicians before being prescribed any drug; some labels include a G6PD warning.
- Female carriers can have variable enzyme activity due to X-inactivation patterns.
Populations
- Most common in Mediterranean, Middle Eastern, and South Asian populations