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Alternative namesAase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.
Causes, incidence, and risk factorsAase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
Signs and tests
TreatmentFrequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.
Expectations (prognosis)Anemia usually resolves over the years.
Calling your health care providerCall your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recommended if there is a family history of Aase syndrome.
PreventionAs with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.
Update Date: 8/6/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT