G6PD deficiency is a common enzyme deficiency that can lead to problems with red blood cells. It is more common in people of African and Mediterranean descent and can cause hemolytic anemia. However, those with the deficiency are more resistant to malaria. Testing can identify the deficiency, and triggers such as certain medications and infections should be avoided.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzyme deficiency on the X chromosome. It is one of the most common enzyme deficiencies known in the world, found among a wide variety of human populations. People with this genetic condition lack the ability to make G6PD, and this can lead to problems with red blood cells. Many people live very active lives with G6PD deficiency, and some don’t really know they have a genetic defect until symptoms appear.
This enzyme is related to red blood cells. When a G6PD deficiency is triggered by something such as an infection, a certain medication, or a dietary factor, a patient’s red blood cell count drops and hemolytic anemia can result, in which the bone marrow does not produce enough red blood cells. The patient may experience fatigue, jaundice, dark urine, and unusually pale skin when the deficiency becomes acute. Patients can also experience chronic low-level anemia as a result of this enzyme deficiency.
People of African and Mediterranean descent appear to be especially at risk for G6PD deficiency. Interestingly, people with this deficiency are more resistant to malaria, especially the potentially deadly strains, which is a definite plus, since people with a G6PD deficiency usually can’t take antimalarial drugs. The fact that malaria is endemic in Africa and the Mediterranean probably has something to do with the frequency of G6PD deficiency in these areas, as natural resistance to malaria would have been a clear advantage to humans in these areas historically. .
For those interested, this enzyme deficiency can be identified with a blood test. People who think they might be at risk can opt for a blood test to detect G6PD deficiency before it becomes a problem, and parents can also request the test to determine whether or not their children have inherited it. the Gen. Testing may also be done when a patient shows signs of an acute deficiency, such as when a child takes antibiotics for the first time and becomes seriously ill as a result of the deficiency.
In individuals with G6PD deficiency, it is necessary to avoid triggers such as certain medications and types of infections. Vaccines are often highly recommended so that people do not get sick with infections that could cause acute symptoms. Many patients also need to stay away from fava beans, as G6PD deficiency is closely linked to favism, a common hereditary condition in the Mediterranean characterized by the inability to eat fava beans. Mothballs can also trigger acute reactions.
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