Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is a hereditary disease which can cause jaundice in newborn babies and haemolytic anaemia (when red blood cells break up) throughout life, usually triggered by an infection or exposure to certain foods or chemicals. One of the chemicals that can trigger severe symptoms in people with G6PD deficiency is primaquine, the only drug currently available to clear the relapsing life stages of the Plasmodium vivax parasite (one of the two major parasites causing malaria in humans) from the liver.
The gene that codes for G6PD has a number of variants; some code for normal levels of G6PD in the body, some cause mild deficiencies and some cause severe deficiencies. The gene is found on the X chromosome. Women have two copies of the X chromosome and therefore two opportunities to inherit a copy of the gene which codes for normal levels of G6PD. Men only have one copy of the X chromosome and therefore only one copy of the G6PD gene. Men are therefore more likely to suffer from severe G6PD deficiency.
G6PD deficiency can be common in populations with high levels of malaria infection caused by the parasite Plasmodium vivax. Malaria control programmes need to know this to inform their policies on using primaquine as a treatment and as a control measure for malaria in the population. Our research focuses on mapping the prevalence of G6PD deficiency and the genetic mutations causing it. We have also calculated estimates of the populations affected by the condition.