G6PD (glucose-6-phosphate dehydrogenase) deficiency is an inherited disorder in which the body does not make enough of an enzyme called G6PD. This enzyme is important to help red blood cells work properly. If the enzyme is missing or not made correctly, red blood cells can break down and become damaged. This can lead to a condition called hemolytic anemia.
The symptoms of this genetic condition vary from person to person, so it is hard to know exactly what a patient will experience. Some people with G6PD deficiency do not have any noticeable symptoms at all. Others may experience some, but they are usually mild and do not need treatment.
Some medications can cause red blood cell breakdown, so it is important to let your doctor know about all of the medicines you take. These include some antibiotics, anti-inflammatory drugs, and anti-malarials.
Certain foods can also trigger an episode of hemolysis, such as fava beans. This reaction is triggered by a chemical in the food that causes oxidative stress in people with this gene mutation.
A person with G6PD deficiency should avoid eating fava beans. This is because they can cause an oxidative response that can lead to severe red blood cell damage.
In some cases, the reaction is so strong that a person can die from it. It can happen when people with this genetic condition eat too many fava beans or use too much of the fava bean extracts that are sold in some stores.
Another symptom of G6PD deficiency is jaundice in adults and children. This is usually mild and goes away as the body makes more red blood cells. It can be more serious in newborn babies, though, and can lead to permanent neurologic damage or death.
During an episode of hemolysis, the bilirubin in the blood can increase to very high levels. This can cause nausea, vomiting, and weakness. It can also cause the skin to turn yellow, which is a sign of jaundice.
There are several tests to diagnose G6PD deficiency. One is a simple blood test that looks for the presence of G6PD enzyme in the blood. The blood will show up fluorescent under a UV light, which lets your doctor see the presence of the enzyme.
Your doctor might also want to use a spectrophotometer, which shines light through a sample of your blood and measures the amount of glucose it absorbs. This can be used to find out if you have G6PD deficiency quickly and easily at home or in the hospital.
It can also be used to find out if you have methemoglobinemia, which is when the iron in your heme group of hemoglobin molecules is oxidized. This oxidation can cause red blood cells to form the substance methemoglobin, which is a poor binder of oxygen.
Getting tested for this genetic condition is important. It can prevent you from developing a severe case of hemolytic anemia and can help your doctor identify the cause of your anemia. It can also help your doctor identify the best treatment for you and your family.
