Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited genetic disorder that can result in destruction of red blood cells (hemolysis) after an acute illness or use of certain medications.
G6PD deficiency occurs because of a genetic defect in an enzyme involved in red blood cell metabolism.
G6PD deficiency results in destruction of red blood cells in response to certain illnesses or medications.
The destruction of red blood cells can cause symptoms, including yellowing of the skin and whites of the eyes, dark urine, and sometimes back or abdominal pain.
A blood test can assess the level of the G6PD enzyme.
Treatment usually is not needed, but people with G6PD deficiency should avoid certain medications and substances.
G6PD is an enzyme important for maintaining the stability of hemoglobin. Hemoglobin is the protein contained in red blood cells that enables them to carry oxygen from the lungs and deliver it to all parts of the body. G6PD helps protect hemoglobin from damage due to the stress of infections or the use of certain medications or substances. People who have G6PD deficiency inherit a defect in the gene responsible for producing G6PD so they do not have enough of the enzyme in their blood cells.
G6PD deficiency is X-linked, meaning that mainly males are affected and females are carriers of the defective gene. However, activity of the G6PD gene is highly variable, so in some people G6PD does not work quite as well as it should and in others it does not work at all.
This defect is common in males with African or Black American ancestry. It is also common among people with ancestors from the Mediterranean basin (such as those of Italian, Greek, Arab, and Sephardic Jewish ancestry) and people with ancestors from Asia.
G6PD deficiency shortens red blood cell survival. When people with G6PD deficiency get sick, for example due to a viral or bacterial infection or diabetic ketoacidosis, their red blood cells rapidly break down. These episodes of red blood cell destruction (hemolytic crisis) usually resolve on their own.
Symptoms of G6PD Deficiency
In most cases, episodes of red blood cell destruction are mild and do not cause any symptoms. However, when the enzyme deficiency is more severe, symptoms include jaundice (a yellowing of the skin and the whites of the eyes), dark urine, fatigue, and shortness of breath. Some people have back and/or abdominal pain.
Diagnosis of G6PD Deficiency
Blood test of G6PD activity
Evaluation of a blood smear
Doctors suspect G6PD deficiency in people who develop jaundice during an infectious illness or after taking a medication that is known to trigger an episode. Blood tests, including examining a blood smear, are done to see if red blood cells are breaking down. If they are, doctors can measure G6PD activity in red blood cells. They measure G6PD activity during blood cell breakdown and then again after it has stopped.
Screening tests for G6PD deficiency can be done on people at risk for the disorder.
Treatment of G6PD Deficiency
Supportive care
Stop taking drugs or substances that may be causing hemolysis
Avoidance of known triggers
Often no treatment is needed, and people just have to wait for their red blood cell numbers to return to normal. If an episode is severe, people may need to be hospitalized to receive treatment, such as oxygen or intravenous fluid. Sometimes blood transfusions are needed.
Doctors advise people to stop taking any medication or substance that might have caused the episode of hemolysis and to avoid medications or substances that are likely to trigger an episode.
