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Doctors' Answers to "Frequently Asked Questions" - G6PD

These comments are made for the purpose of discussion and should NOT be used as recommendations for or against therapies or other treatments. An individual patient is always advised to consult their own physician.

General Information
Question: I would like to have more in depth information regarding G6PD (Glucose 6 Phosphate) deficiency, and what is the implication of such condition.

Answer: G6PD stands for glucose-6-phosphate dehyrogenase deficiency. This is the most common of the inherited enzyme deficiencies of the red blood cell. Since the red blood cell loses its nucleus as it matures from a stem cell to a mature cell these enzymes are important in the ability to generate energy in the red blood cell(more so than with cells with intact nucleus). G6PD affects the pentose phosphate pathway of energy generation. Cells with this deficiency will have less available glucose for energy generation and more likely to die leading to anemia(hemolytic variety). There are several varieties and they are predominant in blacks from Central Africa leading some to suppose that there was some advantage in malaria survival. The normal G6PD is named B. There is an A+ seen in about 20% of blacks which seems to cause little problem. A- is found in about 10% of blacks and is more unstable. There are other varieties seen in Sephardic Jews and Chinese. The genetic defect is associated with the X chromosome. So, like many genetic diseases women will only be affected if they receive the affected chromosome from both parents(homozygous). Men are predominately affected since they will have the condition if they receive the affected chromosome from their mother(since they only have one X chromosome). Patients will experience recurring spells of hemolytic anemia caused by infections, environmental stress or different drugs. Aspir.htmsulfa antibiotics, anti-malarial drugs and nitrofurantoin are common drugs which can produce problems although there is a long list of potential offenders.

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