Red blood cells are the most abundant cell in the blood stream and are mostly responsible for transporting oxygen to the tissues. The cells propagate a series of chemical reactions to survive -- in other words, they have a metabolism. Glucose-6-phosphate dehydrogenase, or G6PD, is an enzyme that helps a particular chemical reaction to occur. Hundreds of millions of people have a deficiency of the enzyme. Consult with a physician for the diagnosis and management of G6PD deficiency.
Epidemiology
Over 400 million people have G6PD deficiency, according to a 2008 article in the journal "Lancet." It is an inherited X-linked recessive disease. This means the deficiency is from an enzyme on the X chromosome. Since men only have one copy of the X chromosome and women have 2, women can compensate for a defective enzyme on one X chromosome if the enzyme on the other X chromosome is working. Therefore, the disorder is more common in men. In addition, it is more likely to occur in people of African, South-Asian and Middle Eastern descent. It is more common among blacks than whites in the United States.
Pathophysiology
The lack of a functional G6PD enzyme causes red blood cells to be more sensitive and prone to breaking apart. This can cause low red blood cell counts, or anemia. Anemia caused by red blood cells breaking apart is called hemolytic anemia. In G6PD deficiency, red blood cell destruction can be caused by infections, foods such as fava beans, stress, and drugs such as aspirin, NSAIDS such as ibuprofen, anti-malarial drugs and some other chemicals.
Symptoms
Most people with G6PD deficiency are without symptoms. The symptoms of G6PD can include yellowing or paleness of the skin, weakness, fatigue, shortness of breath and, in severe cases, kidney failure. The symptoms do not appear to be better or worse in African-Americans.
Diagnosis and Treatment
A family history of the disease, or being a member of the previously mentioned ethnicities, combined with the symptoms of G6PD deficiency, will cause a propensity for the disease. Blood tests can help establish the diagnosis and rule out other conditions. DNA sequencing can also reveal the presence of the disease. Treatment is primarily preventive -- avoiding the triggers of hemolytic anemia. Severe cases may require blood transfusions or removal of the spleen.
References
- "Lancet"; Glucose-6-phosphate Dehydrogenase Deficiency; Capellini; 2008
- "Lehninger Principles of Biochemistry, Fourth Edition"; David L. Nelson, et al.; 2004
- "Robbins and Cotran Pathologic Basis of Disease, Eighth Edition"; Vinay Kumar, et al.; 2009
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