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学科主题: 临床医学
题名:
Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p. Met1093Ile
作者: Qiao, Shu-Kai1,2; Ren, Han-Yun1; Ren, Jin-Hai2; Guo, Xiao-Nan2
关键词: factor VIII ; hemophilia A ; female ; F8 ; mutation
刊名: MOLECULAR MEDICINE REPORTS
发表日期: 2014-02-01
DOI: 10.3892/mmr.2013.1841
卷: 9, 期:2, 页:466-470
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Oncology ; Medicine, Research & Experimental
研究领域[WOS]: Oncology ; Research & Experimental Medicine
关键词[WOS]: FACTOR-VIII GENE ; X-CHROMOSOME INACTIVATION ; COAGULATION-FACTOR-VIII ; VON-WILLEBRAND-DISEASE ; MOLECULAR-MECHANISMS ; SWISS-MODEL ; ORGANIZATION ; POPULATION ; INSIGHTS ; DOMAIN
英文摘要:

Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an intrauterine device. IgG inhibitory antibodies against FVIII were undetected. A compound heterozygote mutation of the FVIII gene (F8) was found in this patient. The p.Val502Asp mutation, which has been reported previously, affects A2 domain function. A novel missense point mutation, p.Met1093Ile, was identified in the B domain. The compound heterozygote mutations in F8, p.Val502Asp and p.Met1093Ile, caused HA in this female patient, with a moderate phenotype.

语种: 英语
WOS记录号: WOS:000332694100012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57228
Appears in Collections:北京大学第一临床医学院_血液内科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Hematol, Beijing 100034, Peoples R China
2.Hebei Med Univ, Dept Hematol, Hosp 2, Shijiazhuang 050000, Hebei, Peoples R China

Recommended Citation:
Qiao, Shu-Kai,Ren, Han-Yun,Ren, Jin-Hai,et al. Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p. Met1093Ile[J]. MOLECULAR MEDICINE REPORTS,2014,9(2):466-470.
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