G6PD Deficiency
G6PD deficiency (Glucose-6-phosphate dehydrogenase deficiency) is an inherited genetic condition in which red blood cells lack enough G6PD enzyme, making them more vulnerable to breaking down (hemolysis) under certain stresses such as infections, specific medicines, or certain foods.
G6PD deficiency (Glucose-6-phosphate dehydrogenase deficiency) is an inherited enzyme disorder that affects red blood cells. The G6PD enzyme helps protect red blood cells from damage caused by oxidative stress. When this enzyme is deficient, red blood cells can break apart prematurely, a process known as hemolysis, leading to hemolytic anemia. The condition is caused by mutations in the G6PD gene and is inherited in an X-linked pattern, making it more common in males. Many people with G6PD deficiency have no symptoms unless exposed to triggers such as certain medications, infections, fava beans, or specific chemicals. Symptoms of a hemolytic episode may include fatigue, pale skin, jaundice, dark urine, shortness of breath, and rapid heartbeat. Management focuses on avoiding known triggers and treating episodes of anemia when they occur.
G6PD deficiency is a genetic condition where red blood cells do not have enough of a protective enzyme called G6PD. Without enough of this enzyme, certain medicines, foods, or infections can damage red blood cells and cause anemia. Many people with G6PD deficiency stay healthy by avoiding known triggers.
• Full name: Glucose-6-phosphate dehydrogenase deficiency • Inherited genetic enzyme disorder affecting red blood cells • Reduces protection against oxidative stress • Can cause premature breakdown of red blood cells (hemolysis) and hemolytic anemia • Caused by mutations in the G6PD gene and commonly inherited in an X-linked pattern • More frequently affects males • Many individuals have no symptoms unless exposed to triggers • Common triggers include certain medicines, infections, fava beans, and some chemicals • Symptoms during hemolysis may include fatigue, jaundice, pale skin, dark urine, and shortness of breath • Management mainly involves avoiding triggers and treating anemia episodes when needed
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.
If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include:
- Paleness
- Jaundice
- Dark urine
- Fatigue
- Shortness of breath
- Enlarged spleen
- Rapid heart rate
A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.
NIH: National Library of Medicine
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