Pyruvate kinase deficiency is an inherited lack of the
Causes, incidence, and risk factors
Pyruvate kinase deficiency is passed down as an
There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. Pyruvate kinase deficiency is the second most common cause, after
Pyruvate kinase deficiency is found in people of all ethnic backgrounds. However, certain populations, such as the Amish, are somewhat more likely to develop the condition.
- A yellowing of the whites of the eyes (icterus)
- Fatigue, lethargy
- Pale skin (
Signs and tests
During a physical exam, the doctor will look for an
Tests include the following:
Bilirubinin the blood CBC
- Genetic testing for mutation in the pyruvate kinase gene
- Large red blood cells (macrocytosis)
- Levels of haptoglobin in the blood
Osmotic fragility Pyruvate kinaseactivity
- Stool urobilinogen
People with severe anemia may need blood transfusions. Removing the spleen (
Someone who had a splenectomy should receive the
The outcome varies. Some people have few or no symptoms. Others have severe symptoms. Treatment can usually make symptoms less severe.
Gallstones are a common problem. They are made of too much bilirubin, which is produced during hemolytic anemia. Severe pneumococcal disease is a possible complication after splenectomy.
Calling your health care provider
See your health care provider if:
- You have jaundice (this is a symptom of many severe illnesses)
- You have a family history of this disorder and are planning to have children
Genetic counseling can help prospective parents with a family history of pyruvate kinase deficiency. People who carry the gene can often be diagnosed by finding decreased RBC pyruvate kinase activity in their red blood cells.