These disorders are very rare in children and their exact aetiology is unknown.
Children often present with bruising because of low platelet count and recurrent infections.
The diagnosis is often made by examination of the peripheral blood and the bone marrow. Further tests will be done on the bone marrow to confirm the diagnosis and the exact subtype of the disorder. Certain cytogenetic abnormalities are typically associated with these disorders and may help to predict response to treatment and outcome. The diagnosis may not be clear cut at initial presentation and an observation period may be necessary prior to any form of therapy. The treatment of these disorders has changed over the last decade.