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Pyruvate kinase deficiency - Treatment

Treatment:

People with severe anemia may need blood transfusions. Removing the spleen (splenectomy) may help reduce the destruction of red blood cells. However, this does not help in all cases. In newborns with dangerous levels of jaundice, the health care provider may recommend an exchange transfusion.

Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.

Expectations (prognosis):

The outcome varies. Some people have few or no symptoms. Others have severe symptoms. Treatment can usually make symptoms less severe.

Complications:

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
  • Reviewed last on: 1/21/2010
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Segel GB. Enzymatic defects. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 463.

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