![]() A female with one affected X chromosome will show the deficiency in approximately half of her red blood cells. Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient red blood cells coexisting with unaffected red blood cells. Most individuals with G6PD deficiency are asymptomatic. In 2015 it is believed to have resulted in 33,000 deaths. Males are affected more often than females. It is particularly common in certain parts of Africa, Asia, the Mediterranean, and the Middle East. Ībout 400 million people have the condition globally. It is recommended that people be tested for G6PDD before certain medications, such as primaquine, are taken. Jaundice in newborns may be treated with bili lights. Treatment of acute episodes may include medications for infection, stopping the offending medication, or blood transfusions. Since G6PD deficiency is not an allergy, food regulations in most countries do not require that fava beans be highlighted as an allergen on the label. Falafel is probably the best known, but fava beans are also often used as filler in meatballs and other foods. This can be difficult, as fava beans may be called "broad beans" and are used in many foods, whole or as flour. Īffected persons must avoid dietary triggers, notably fava beans. Diagnosis is based on symptoms and supported by blood tests and genetic testing. Depending on the specific mutation the severity of the condition may vary. Red blood cell breakdown may be triggered by infections, certain medication, stress, or foods such as fava beans. This destruction of red blood cells is called hemolysis. A defect of the enzyme results in the premature breakdown of red blood cells. Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. Complications can include anemia and newborn jaundice. ![]() Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop. Most of the time, those who are affected have no symptoms. ![]() Glucose-6-phosphate dehydrogenase deficiency ( G6PDD), which is the most common enzyme deficiency worldwide, is an inborn error of metabolism that predisposes to red blood cell breakdown. Pyruvate kinase deficiency, hereditary spherocytosis, sickle cell anemia Īvoiding triggers, medications for infection, stopping offending medication, blood transfusions Triggered by infections, certain medication, stress, foods such as fava beans īased on symptoms, blood test, genetic testing Yellowish skin, dark urine, shortness of breath Medical condition Glucose-6-phosphate dehydrogenase deficiency
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