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单词 X linked thrombocytopenia
释义

X linked thrombocytopenia

英语百科

X linked thrombocytopenia

X-linked thrombocytopenia, also referred to as XLT or Thrombocytopenia 1, is an inherited clotting disorder that primarily affects males. It is a WAS-related disorder, meaning it is caused by a mutation in the Wiskott-Aldrich Syndrome (WAS) gene, which is located on the short arm of the X chromosome. WAS-related disorders include Wiskott-Aldrich syndrome, XLT, and X-linked congenital neutropenia (XLN). Of the WAS-related disorders, X-linked thrombocytopenia is considered to be the milder phenotype. Between 1 and 10 per million males worldwide are affected with this disorder. Females may be affected with this disorder but this is very rare since females have two X chromosomes and are therefore typically carriers of the mutation.

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更新时间:2025/6/19 3:07:59