Table of Contents

HK J Paediatr (New Series)
Vol 25. No. 2, 2020

HK J Paediatr (New Series) 2020;25:111-114

Case Report

Two Cases of Paediatric Essential Thrombocythaemia with Calreticulin Gene Mutation

MMH Cheng, KFS Leung, ASC Ling


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.

原發血小板增多症(Essential thrombocythaemia, ET)是兒科各種血液病中的一種罕見疾病。我們報告兩個有症狀的病例,在香港一所區域醫院接受治療。兩例患者在不同部位均發現鈣網蛋白(calreticulin, CALR)基因突變。一例患者有陽性家族史。這例患者接受抗血小板、細胞減少處理,及干擾素α治療,臨床效果良好。我們的報告強調了這種骨髓增生性疾病的臨床特徵和治療方法,強調了分子研究對診斷的作用。

Keyword : Calreticulin; Essential thrombocythaemia; Interferon-alpha; Myeloproliferative disorders



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