G6PD deficiency

G6PD deficiency is a genetic disorder that primarily affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction can cause a variety of health problems, including a form of anemia known as hemolytic anemia.

Causes

G6PD deficiency is caused by mutations in the G6PD gene. This gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase, which plays a critical role in red blood cells. This enzyme helps protect red blood cells from potentially harmful byproducts that can accumulate when the body is under stress, such as during a bacterial or viral infection.

Symptoms

The most common symptom of G6PD deficiency is hemolytic anemia, which can cause fatigue, paleness, and yellowing of the skin and eyes (jaundice). Other symptoms can include rapid heart rate, shortness of breath, and dark urine. Some people with G6PD deficiency also develop an enlarged spleen.

Diagnosis

G6PD deficiency is diagnosed through a blood test that measures the amount of G6PD enzyme in red blood cells. Genetic testing can also be used to identify mutations in the G6PD gene.

Treatment

There is no cure for G6PD deficiency. Treatment focuses on managing symptoms and preventing complications. This can include avoiding certain medications and foods that can trigger hemolytic anemia, and treating infections promptly to prevent hemolysis.

Epidemiology

G6PD deficiency is one of the most common human genetic abnormalities, with an estimated 400 million people worldwide affected by the condition. It is most common in people of African, Mediterranean, or Southeast Asian descent.

See also

• Hemolytic anemia
• Genetic disorder
• Red blood cell

G6PD deficiency Resources
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