Congenital Thrombocytopenia

Thrombocytopenia-Absent Radius Syndrome (TARS)

Congenital (present from birth and possibly before) disorder characterized by severe thrombocytopenia (low platelet count – clot forming cells) and bilateral absence of the radial bones (bone in the forearm). Sometimes patients also have other bones from the arm that are abnormal or absent and heart defects.

Usually diagnosed within the first week of life using clinical picture together with blood tests.

Congenital Amegakaryocytic Thrombocytopenia (CAT)

Severe thrombocytopenia (low platelet count -clot forming cells-) present at birth and possibly before that.

At birth, it may present with bleeding and bruising. Later in childhood, patients develop a decrease in all blood cell lines. Patients may be at risk for leukemia.

The diagnosis is usually made with blood tests and genetic testing.