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Glucose-6-phosphate dehydrogenase deficiency

Definition

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection. It is hereditary which means it is passed down in families.

Alternative Names

G6PD deficiency; Hemolytic anemia due to G6PD deficiency; Anemia - hemolytic due to G6PD deficiency

Causes

G6PD deficiency occurs when a person is missing or does not have enough of an enzyme called glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly.

Too little G6PD leads to the destruction of red blood cells. This process is called hemolysis. When this process is actively occurring, it is called a hemolytic episode. The episodes are most often brief. This is because the body continues to produce new red blood cells, which have normal activity.

Red blood cell destruction can be triggered by infections, severe stress, certain foods (such as fava beans), and certain drugs, including:

  • Antimalarial drugs
  • Aspirin
  • Nitrofurantoin
  • Nonsteroidal anti-inflammatory drugs (NSAIDs)
  • Quinidine
  • Quinine
  • Sulfa drugs

Other chemicals, such as those in mothballs, can also trigger an episode.

In the United States, G6PD deficiency is more common among blacks than whites. Men are more likely to have this disorder than women.

You are more likely to develop this condition if you:

  • Are African American
  • Are of Middle Eastern decent, particularly Kurdish or Sephardic Jewish
  • Are male
  • Have a family history of the deficiency

A form of this disorder is common in whites of Mediterranean descent. This form is also associated with acute episodes of hemolysis. Episodes are longer and more severe than in the other types of the disorder.

Symptoms

People with this condition do not display any signs of the disease until their red blood cells are exposed to certain chemicals in food or medicine, or to stress.

Symptoms are more common in men and may include:

Exams and Tests

A blood test can be done to check the level of G6PD.

Other tests that may be done include:

Treatment

Treatment may involve:

  • Medicines to treat an infection, if present
  • Stopping any drugs that are causing red blood cell destruction
  • Transfusions, in some cases

Outlook (Prognosis)

In most cases, hemolytic episodes go away on their own.

Possible Complications

Rarely, kidney failure or death may occur following a severe hemolytic event.

When to Contact a Medical Professional

Call your health care provider if you have symptoms of this condition.

Call your provider if you have been diagnosed with G6PD deficiency and symptoms do not disappear after treatment.

Prevention

People with G6PD deficiency must strictly avoid things that can trigger an episode. Talk to your provider about your medicines.

Genetic counseling or testing may be available to those who have a family history of the condition.

References

Gallagher PG. Hemolytic anemias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 161.

Janz TG, Hamilton GC. Anemia, polycythemia, and white blood cell disorders. In: Marx JA, Hockberger RS, Walls RM, et al, eds. Rosen's Emergency Medicine: Concepts and Clinical Practice. 8th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 121.

Review Date:2/1/2016
Reviewed By:Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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No data available for this condition/procedure.

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