Glucose-6-phosphate dehydrogenase deficiency
G6PD deficiency; Hemolytic anemia due to G6PD deficiency; Anemia - hemolytic due to G6PD deficiencyGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which red blood cells break down when the body is exposed to certain medicines or the stress of infection. It is hereditary, which means it is passed down in families.
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 G6PD activity.
Red blood cell destruction can be triggered by infections, certain foods (such as fava beans), and certain medicines, including:
- Antimalarial medicines such as quinine
- Aspirin (high doses)
- Nonsteroidal anti-inflammatory drugs (NSAIDs)
- Quinidine
- Sulfa medicines
- Antibiotics such as quinolones, nitrofurantoin
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.
Symptoms are more common in men and may include:
-
Dark urine
Dark urine
The usual color of urine is straw-yellow. Abnormally-colored urine may be cloudy, dark, or blood-colored.
Read Article Now Book Mark Article - Fever
- Pain in abdomen
-
Enlarged spleen and liver
Enlarged spleen
Splenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.
Read Article Now Book Mark ArticleLiver
Enlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...
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Fatigue
Fatigue
Fatigue is a feeling of weariness, tiredness, or lack of energy.
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Pallor
Pallor
Paleness is an abnormal loss of color from normal skin or mucous membranes.
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Rapid heart rate
Rapid heart rate
A bounding pulse is a strong throbbing felt over one of the arteries in the body. It is due to a forceful heartbeat.
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Shortness of breath
Shortness of breath
Breathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough air
Read Article Now Book Mark Article - Yellow skin color (jaundice)
Jaundice
Jaundice is a yellow color of the skin, mucus membranes, or eyes. The yellow coloring comes from bilirubin, a byproduct of old red blood cells. Jau...
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Exams and Tests
A blood test can be done to check the level of G6PD.
Level of G6PD
Glucose-6-phosphate dehydrogenase (G6PD) is a protein that helps red blood cells work properly. The G6PD test looks at the amount (activity) of this...
Read Article Now Book Mark ArticleOther tests that may be done include:
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Bilirubin level
Bilirubin level
The bilirubin blood test measures the level of bilirubin in the blood. Bilirubin is a yellowish pigment found in bile, a fluid made by the liver. Bi...
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Complete blood count (CBC)
Complete blood count
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
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Hemoglobin - urine
Hemoglobin - urine
Hemoglobinuria test is a urine test that checks for hemoglobin in the urine.
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Haptoglobin level
Haptoglobin level
The haptoglobin blood test measures the level of haptoglobin in your blood. Haptoglobin is a protein produced by the liver. It attaches to hemoglobi...
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Lactate dehydrogenase (LDH) test
Lactate dehydrogenase (LDH) test
Lactate dehydrogenase (LDH) is a protein that helps produce energy in the body. An LDH test measures the amount of LDH in the blood.
Read Article Now Book Mark Article - Methemoglobin reduction test
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Reticulocyte count
Reticulocyte count
Reticulocytes are slightly immature red blood cells. A reticulocyte count is a blood test that measures the amount of these cells in the blood....
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Treatment
Treatment may involve:
- Medicines to treat an infection, if present
- Stopping any medicines 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
In rare case, kidney failure or death may occur following a severe hemolytic event.
When to Contact a Medical Professional
Contact your health care provider if you have symptoms of this condition.
Contact 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
Gregg XT, Prchal JT. Red blood cell enzymopathies. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 45.
Lissauer T, Carroll W. Haematological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 23.
Michel M. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 146.
Review Date: 3/31/2024
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.