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НАСЛЕДУЕМЫЕ МОНОГЕННЫЕ ЗАБОЛЕВАНИЯ

           

Glucose-6-phosphate dehydrogenase deficiency (G6PD)

G6PD deficiency (glucose-6-phosphate dehydrogenase deficiency) is an inherited condition in which the body doesn´t have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections. It is a disorder where the red blood cells are destroyed faster than the medulla can produce them.

Red blood cells transport oxygen throughout the body and G6PD protects these cells from the oxygen´s natural chemical products that accumulate when a person has a fever or takes certain medicines. If there are too many of these products, they can destroy the red blood cells, causing a hemolytic anemia. Those patients with glucose-6-phosphate dehydrogenase deficiency are more likely to develop acute hemolytic anemia after taking certain drugs (such as some antibiotics and medications used to treat malaria) or after eating broad beans (Vicia faba) or inhaling pollen from fava plants (a reaction called favism). This can be more serious in children or after eating raw and fresh broad beans.

G6PD deficiency is hereditary (a person is born with this deficiency) and is transmitted by females who have a copy of this gene on the X-chromosome to male children. The male children who receive this gene have G6PD deficiency and the females children who receive it will be healthy carriers (they usually display no symptoms). Those children (male and female) who do not receive the gene are not affected.

Certain ethnic groups have a higher incidence of G6PD deficiency than others; this condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It can be more or less serious depending on the different populations. In its most common form in the Afro-American population, the deficiency is less serious and hemolysis (destruction of red blood cells) mostly affects the older red cells. In Caucasians, G6PD deficiency is more serious as it also affects young red blood cells.

GENE OR REGION STUDIED


  • G6PD