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A case of a severe factor XI deficiency in a Chinese woman with heavy menorrhagia

Wang, Yingyua , *; Wang, Qingyub , *; Zhang, Yonggena , *; Ma, Pinga; Ding, Hongxiangc

Blood Coagulation & Fibrinolysis: March 2019 - Volume 30 - Issue 2 - p 75–79
doi: 10.1097/MBC.0000000000000795
MUTATION REPORTS

The current study was to elucidate the molecular defect in a 32-year-old Chinese woman with heavy menorrhagia and delayed wound healing. The F11 gene was amplified by PCR and screened for mutations. Then identified mutations were analyzed by in-silico programs and molecular modeling analysis. This woman was found to have severely low levels of factor XI (FXI) (FXI:C: 2.0%; FXI:Ag: 5.4%) by surgical screening. Further DNA sequencing of F11 reveled a novel mutation (p.Ser295Ile) in the Ap4 domain and an already known mutation (p.Trp228stop) in the Ap3 domain. Pedigree analysis showed that the new mutation was inherited from her father (FXI:C: 41%), whereas the other was inherited from her mother (FXI:C: 62%). Modeling analysis indicated Ser295Ile mutation probably determining important structural changes in the protein folding. Both of the heterozygous mutation contribute to the severe FXI deficiency by interfering with correct assembly of the region.

aDepartment of Laboratory Medicine

bEmergency Center, The Affiliated Hospital of Xuzhou Medical University, Xuzhou

cDepartment of Clinical Laboratory, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China

Correspondence to Hongxiang Ding, Department of Clinical Laboratory, The Second Affiliated Hospital of Wenzhou Medical University, Lucheng District, Wenzhou 325000, China Tel: +86 57788002009; fax: +86 57788002009; e-mail: wyy080705@126.com

Received 17 September, 2018

Revised 26 December, 2018

Accepted 14 January, 2019

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