x连锁血小板减少症(THC1/XLT)

Q4 Medicine

Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI:10.4267/2042/70729

Jyoti Kumar

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引用次数: 0

摘要

X连锁血小板减少症（XLT）是一种罕见的出血性疾病，其特征是孤立性血小板减少伴小血小板。XLT是Wiskott-Aldrich综合征（WAS）的一种较温和的临床变体，其特征是湿疹、感染易感性和血小板减少症的临床三联征，而XLT患者仅表现为血小板减少症。XLT是由WAS基因突变引起的。

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X-linked thrombocytopenia (THC1/XLT)

X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene.

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Atlas of Genetics and Cytogenetics in Oncology and Haematology Medicine-Oncology

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