The WAS-related disorders including: Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. X-linked thrombocytopenia (XLT) is a rare recessive hereditary disorder, characterized by isolated thrombocytopenia with small-sized platelets, which primarily affects males. Affected patients usually have abnormally small platelets as well as microthrombocytopenia. Individuals with X-linked thrombocytopenia bruise easily or have spontaneous bleeding. Also some patients experience cerebral hemorrhage, which can cause brain damage that can be life-threatening.
The diagnosis of X-linked thrombocytopenia is suspected in males with congenital thrombocytopenia and small platelet size. It could be confirmed by molecular genetic testing for the variant in WAS gene.