Is G6PD Deficiency?
G6PD deficiency is a genetic
abnormality that results in an inadequate amount of glucose-6-phosphate
dehydrogenase (G6PD) in the blood. This is a very important enzyme, or protein,
that regulates various biochemical reactions in the body. G6PD is also
responsible for keeping red blood cells healthy so they can function properly
and live a normal life span. Without enough of it, red blood cells break down
prematurely. This early destruction of red blood cells is known as hemolysis,
and it can eventually to hemolytic anemia.
Hemolytic anemia develops when red
blood cells are destroyed faster than the body can replace them, resulting in
reduced oxygen flow to the organs and tissues. This can cause fatigue,
yellowing of the skin and eyes, and shortness of breath. In people with G6PD
deficiency, hemolytic anemia can occur after eating fava beans or certain
legumes. It may also be triggered by infections or by certain drugs, such as:
- antimalarials, a type of medication used to
prevent and treat malaria
- sulfonamides, a medication used for treating various
- aspirin, a drug used for relieving fever, pain,
- some nonsteroidal anti-inflammatory medications
G6PD deficiency is most prevalent in
Africa, where it can affect up to 20 percent
of individuals. The condition is also more common in men than in women.
Most people with G6PD deficiency
usually don't experience any symptoms. However, some may develop symptoms when
they’re exposed to the medication, food, or infection that triggers the early
destruction of red blood cells. Once the underlying cause is treated or
resolved, symptoms of G6PD deficiency usually disappear within a few weeks.
Are the Symptoms of G6PD Deficiency?
Symptoms of G6PD deficiency can
- rapid heart rate
- shortness of breath
- urine that is dark or yellow-orange
- jaundice, or yellowing of the skin and whites of
Causes G6PD Deficiency?
G6PD deficiency is a genetic condition
that it is passed along from one or both parents to their child. The defective
gene that causes this deficiency is on the X chromosome, which is one of the two
sex chromosomes. Men have only one X chromosome, while women have two X
chromosomes. In males, one altered copy of the gene is enough to cause G6PD
deficiency. In females, however, a mutation would have to occur in both copies
of the gene. Since it is unlikely for females to have two altered copies of
this gene, males are affected by G6PD deficiency much more frequently than
Are the Risk Factors for G6PD Deficiency?
You may have a higher risk of developing
G6PD deficiency if you:
- are male
- are African-American
- are of Middle Eastern descent
- have a family history of the condition
Having one or more of these risk
factors doesn’t necessarily mean that you will get G6PD deficiency. Talk with
your doctor if you’re concerned about your risk for the condition.
Is G6PD Deficiency Diagnosed?
Your doctor can diagnose G6PD
deficiency by performing a simple blood test to check G6PD enzyme levels. Other
diagnostic tests that may be done include a complete
blood count, serum hemoglobin test,
and a reticulocyte count.
All these tests measure the amount of red blood cells in the body. They can
also help your doctor to diagnose hemolytic anemia.
During your appointment, it’s
important to tell your doctor about your diet and any medications you’re
currently taking. These details can help your doctor with the diagnosis.
Is G6PD Deficiency Treated?
Treatment for G6PD deficiency consists
of removing the trigger that is causing symptoms. If the condition was
triggered by an infection, then the underlying infection is treated
accordingly. Any current medications that may be destroying red blood cells are
also discontinued. In these cases, most people can recover from the condition
on their own.
Once G6PD deficiency has progressed to
hemolytic anemia, however, more aggressive treatment may be required. This
usually includes oxygen therapy and a blood transfusion to replenish oxygen and
red blood cell levels. You will need to stay in the hospital while receiving
these treatments, as close monitoring of severe hemolytic anemia is critical
for ensuring a full recovery without complications.
Is the Outlook for Someone with G6PD Deficiency?
Most people with G6PD deficiency
completely recover once treatment is received for the underlying cause of the
condition. However, it’s important to learn how you can manage the condition
and symptoms from developing. Managing G6PD deficiency involves avoiding foods
and medications that can trigger the condition. Reducing stress levels can also
help in controlling symptoms. Ask your doctor for a printed list of medications
and foods that you should avoid.