Essential thrombocythaemia is a rare entity among the various paediatric haematological disorders. We report two symptomatic cases admitted into a regional hospital in Hong Kong. Both patients were found to have mutated Calreticulin gene at different sites. One patient has a positive family history. The patients were given anti-platelet and cytoreductive agents, as well as interferon-alpha with good clinical outcome. Our report highlights the clinical features and treatment strategies of this myeloproliferative disorder, emphasizing on the contribution of molecular investigations in the diagnostic pathway.
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