Q: I have a condition called G6PD (for short). Can you tell me anything about it? My doctor doesn’t seem to know much about it.
A: G6PD is short for glucose-6-phosphate dehydrogenase, a substance that helps keep red blood cells functioning normally. I believe you have G6PD deficiency, which simply means that you have too little G6PD circulating in your blood stream. It is the most common red blood cell disorder in humans, effecting around 600 million worldwide.
The condition is inherited, meaning that it is passed from parents to children. Those most commonly affected are African-American males with African-American females being primarily carriers. Those of Mediterranean descent (Italian, Greek, Arab, Sephardic Jews) are also more likely to be affected than other ethnic groups. African-Americans tend to have more mild cases, while those of Mediterranean descent typically are more severely affected.
Most sufferers don’t display symptoms. When they are present, they are the result of anemia caused by destruction of the red blood cells and can include paleness, an enlarged spleen, rapid breathing or shortness-of-breath, dark or tea-colored urine, extreme fatigue, jaundice, and a rapid heartbeat.
G6PD deficiency reactions are triggered by certain medications, including pain killers, fever-reducing drugs, antibiotics, anti-malarials eating fava beans, and certain illnesses such as bacterial and viral infections or diabetic ketoacidosis. During an episode, if the trigger can be found and eliminated, symptoms should resolve within a few weeks with no other treatment. Should other treatment be necessary for more severe cases, hospitalization may be required for the administration of oxygen, fluids and possibly transfusion.
Because you have been diagnosed with G6PD deficiency, your children (if you have any) should speak with their physician(s) regarding testing to determine if they are carriers or if they are affected. Avoidance of triggers can reduce the possibility of an attack and subsequent anemia. You can also learn more online at www.G6PDdeficiency.org.
