Aase syndrome - Symptoms, Causes & Prevension

Introduction:

Aase syndrome or Aase-smith syndrome is a rare genetic disorder. Anemia and bone deformities are the important characteristics of this syndrome. Aase syndrome patients have one or more physical disabilities such as slow growth in childhood, but mental retardation and other neurological problems are not related with it. It is also known as congenital anemia-Triphalangeal thumb syndrome.


Symptoms:

Anemia, slow growth, presence of three bones within the thumbs, pale skin, narrow shoulders, deformed ears, reduction of red cells in blood etc. are important symptoms of Aase syndrome.


Causes:

Cause of Aase syndrome is unknown. It is not a fully inherited diseas, in some cases have been shown to be inherited. The most important feature of this syndrome is Anemia. Anemia caused by underdevelopment of the bone marrow, which is where blood cells are formed.


Treatment:

Frequently apply pure blood, Hematopoiec stem cell transplantation (transplantation of blood stem cells derived from the bone marrow or blood. Prednisone (Prednisone is in a class of drugs called steroids) is also used to treat anemia related with Aase syndrome. But prednisone should only be used after finding the benefits and risks with a doctor who has experienced in treating anemic patients.


Prevention:

There is no way to prevent genetic diseases. Identify diseases and treatment of infections in childhood, limit low white blood cell counts. Self care steps during pregnancy start by collecting relevant information before you become pregnant. Take vitamins in advance, don’t drink alcohol, cut the caffeine, avoid too much noise etc. will help to prevent Aase syndrome.


Alternative therapy:

A bone marrow transplant may be necessary if other treatment fails. A bone Marrow transplant is a procedure that transplants healthy bone marrow into a patient whose bone marrow is not working properly.


Links:

http://children.webmd.com/

http://en.wikipedia.org/

http://www.rarediseases.org/

http://www.enotes.com/

http://www.drugs.com

http://www.peacehealth.org/