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Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase deficiency Causes

Mutations in the glucose-6-phosphate dehydrogenase cause the disease. The disease affects certain ethnic groups, and is more common in black males in the United States, affecting about 13% of the population. Some black women are also affected by the disease, but this is dependent on their genetic make-up. Those of Middle Eastern origin, particularly the Kurds, and Sepharic Jewish origin are more at risk as well.

Glucose-6-phosphate dehydrogenase deficiency Definition

Glucose-6-phosphate dehydrogenase deficiency is a hereditary recessive x-linked enzyme defect. The disease is presented by abnormally low levels of the enzyme glucose-6-phosphate dehydrogenase. The enzyme is metabolic and is particularly significant to red blood cell metabolism. It is also associated to favism, a disease resulting in a hemolytic reaction due to the ingestion of fava beans.

Glucose-6-phosphate dehydrogenase deficiency Diagnosis

When persons from the prone ethnic origins develop jaundice, anemia, and other signs of hemolysis, tests will be done including TSH measurement, liver enzymes, haptoglobin, CBC, and reticulocyte count.

Glucose-6-phosphate dehydrogenase deficiency Symptoms and Signs

Because of the x-linked nature of the disease, sufferers are almost always men. However, females may also be affected. Symptoms of glucose-6-phosphate dehydrogenase deficiency include jaundice, dark urine, paleness, fatigue, enlarged spleen, shortness of breath, rapid heart rate, and in severe cases, acute renal failure. Hemolysis may also occur as a reaction to diabetic ketoacidosis, severe infection, antimalarial medication, medicines that contain phenacetin or aspirin, antibiotics, some antihelmintics, henna, and fava beans.

Glucose-6-phosphate dehydrogenase deficiency Treatment

For those who are prone to the disease, prevention is key. It helps to avoid the foods and drugs that may lead to hemolysis, as well as vaccination for pathogens. However if a drug is causing the condition, simply stopping the drug can treat the disease.

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