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Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p. Met1093Ile
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
2014-02-01
DOI10.3892/mmr.2013.1841
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
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被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57228
专题北京大学第一临床医学院_血液内科
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
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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.
APA Qiao, Shu-Kai,Ren, Han-Yun,Ren, Jin-Hai,&Guo, Xiao-Nan.(2014).Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p. Met1093Ile.MOLECULAR MEDICINE REPORTS,9(2),466-470.
MLA Qiao, Shu-Kai,et al."Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p. Met1093Ile".MOLECULAR MEDICINE REPORTS 9.2(2014):466-470.
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