G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency

What is G6PD deficiency?

G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase (an enzyme present in red blood cells) in the blood, which can cause a type of anemia known as hemolytic anemia. Red blood cells carry oxygen in the body and G6PD protects these cells from natural oxygen chemicals that may build up when you have a fever or take certain medications. If there are too many of these chemicals, they can destroy the red blood cells, causing hemolytic anemia. G6PD deficiency is inherited – people are born with the deficiency.

What causes G6PD deficiency?

G6PD deficiency is inherited by a gene on the X chromosome. Chromosomes are the structures in our cells which contain our genes; genes code for all of our traits such as eye color and blood type. All humans have 46 chromosomes, or 23 pairs; the last pair determines gender: females have two X chromosomes, while males have one X and one Y chromosome. G6PD deficiency is inherited from females who carry one copy of the gene on one of their X chromosomes, to half of their sons. Sons who receive the gene have G6PD deficiency, and daughters who receive the gene are carriers (who generally do not show any symptoms). Sons and daughters who do not receive the gene are unaffected.

Certain ethnic groups have an increased incidence of G6PD deficiency than others. G6PD deficiency is seen in about 10 percent of African-American males in the US, and is also common in persons from the Mediterranean area or Asia. The severity of G6PD deficiency differs among different populations. In the most common form in the African-American population, the deficiency is mild and the hemolysis (destruction of re blood cells) affects primarily older red blood cells. In Caucasians, G6PD deficiency tends to be more serious, as even young red blood cells are affected.

Treatment for G6PD deficiency:

In most cases, G6PD deficiency does not cause problems for an individual, unless they are exposed to medications or foods which may damage their blood cells. Persons with G6PD deficiency can tolerate small amounts of these exposures, depending on the specific defect present in the gene. Specific treatment for G6PD deficiency anemia will be determined by your physician based on:

• your age, overall health, and medical history
• extent of the disease
• your tolerance for specific medications, procedures, or therapies
• expectations for the course of the disease
• your opinion or preference