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Thrombocytopenia is a bleeding disorder caused by decreased levels of platelets in the bloodstream.  Decreased platelets may be caused by decreased platelet production in the bone marrow, increased levels of platelets in the spleen and higher than normal breakdown of platelets.  Patients with Thrombocytopenia tend to bruise easily and have prolonged bleeding times. 


Diagnosis of Thrombocytopenia often starts with a low blood platelet count.  The functions of the spleen and bone marrow are carefully monitored to determine the reason behind the decreased levels of platelets.  This is also necessary to rule out any other blood disorders, cancers or other diseases.


Treatment of Thrombocytopenia depends on severity and the organ affected.  Platelet transfusion is commonly done to replenish the platelet supply.  Drugs such as steroids may also be prescribed to maintain healthy platelet levels.  In severe cases of spleen enlargement, the spleen may be partially or completely removed. 


The causes of Thrombocytopenia are varied.  Some are idiopathic while others have genetic causes.  Some instances of Thrombocytopenia have been traced to a defect in the WAS gene on the X Chromosome.  Individuals and their families should consult with a genetic counselor to determine whether their form of Thrombocytopenia is genetically linked.  If so, they could take advantage of new genetic testing now available to reduce the chances of passing on the disorder to their children.  One of these tests is Preimplantation Genetic Diagnosis (PGD).  PGD is different from other prenatal testing for it tests an embryo prior to implantation.  Implanting only genetically healthy embryos will greatly reduce the chance of having an affected child.  Couples should seek the advice of a genetic counselor.  After a thorough genetic evaluation, the genetic counselor can determine whether PGD will be beneficial.  PGD is also available for many other genetic abnormalities and with advances in genetic research is continually being improved to include many other disorders.



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Last modified: 06/09/04