Question

The Mediterranean variant of G6PD deficiency results in a markedly reduced half-life of G6PD, thus leading to marked intravascular hemolysis with oxidative stress. What are the common populations affected by this variant?

1) Greek
2) Italian
3) French
4) Spanish
5) Turkish

Answer 1

Common populations affected by the Mediterranean variant of G6PD deficiency include Greek, Italian, French, Spanish, and Turkish. This condition leads to intravascular hemolysis under oxidative stress and is linked to an X-chromosome. The mutation can provide benefits in malaria-endemic areas.

Step-by-step explanation:

The Mediterranean variant of G6PD deficiency is most commonly associated with populations around the Mediterranean Sea. Those commonly affected include Greek, Italian, French, Spanish, and Turkish populations. This form of G6PD deficiency can lead to marked intravascular hemolysis when patients are exposed to oxidative stress, such as certain foods, medications, and infections. G6PD, a key enzyme in the pentose phosphate pathway, helps protect red blood cells from damage by maintaining levels of NADPH and glutathione.

Patients with G6PD deficiency, particularly males due to the X-linked nature of the condition, must avoid triggers such as fava beans which contains oxidants like vicine and divicine. Female carriers can also be affected due to lyonization. Furthermore, the deficiency can have pleiotropic effects including increasing the risk of chronic diseases like diabetes mellitus type 2 and hypertension in certain populations.

Interestingly, the mutation conferring G6PD deficiency may offer a selective advantage in malaria-endemic regions due to decreased susceptibility to malaria, highlighting a complex relationship between genetics and environment.