Journal of Diagnostics Concepts & Practice >

2020 , Vol. 19 >Issue 1: 20 - 27

DOI: https://doi.org/10.16150/j.1671-2870.2020.01.006

Original articles

Phenotype and genotype diagnosis of 6 pedigrees with inherited coagulation factor Ⅹ deficiency

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  • a State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Shanghai 200025, China
    b Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received date: 2020-01-31

  Online published: 2020-02-25

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Abstract

Objective: To investigate the molecular pathogenesis of 6 pedigrees with inherited coagulation factorⅩ (FⅩ) deficiency and to assess the bleeding risk in patients with inherited FⅩ deficiency by thrombin generation test (TGT).Methods: Clinical data of the 6 pedigrees were collected. The FⅩ coagulation activity (FⅩ:C) was tested by clotting test and FⅩ antigen (FⅩ:Ag) was detected by double antibody sandwich enzyme-linked immunosorbent assay（ELISA）. The concentration of FⅩ in plasma was measured with Western blotting. The FⅩ gene (F10) mutation was analyzed by direct sequencing. Thrombin generation (TG) in six patients and some family members was measured using TET. Results: Ten F10 mutations were identified in 6 probands, five of which (p.Cys 246 Ser, p.Tyr 319 Cys, p.Leu 252 Phe, p.Arg 313 Gln and p. IVS5-2A>G) were novel and the other five(p.Phe71Ser, p.Val 338 Met, p.Gly 406 Ser, p.Gly 365 Ser and p.Cys 151 Arg) had been previously reported. TGT showed that endogenous thrombin potential (ETP) and peak height (Peak) had certain correlation with bleeding severity of FX-deficient patients. Conclusions: Five noval mutations of FⅩ are identified. Five patients were resulted from compound heterozygous F10 mutations, while the remaining one is caused by one heterozygous F10 mutation. TGT parameters including ETP and Peak could be used to assess the bleeding risk in patients with FⅩ deficiency, and TGT might serve as a useful laboratory tool to monitor the risk of bleeding.

Key words： Coagulation factor Ⅹ deficiency; Thrombin generation test; Phenotype; Genotype

Cite this article

LIU Jiajie, SHAO Yanyan, LIANG Qian, DING Qiulan . Phenotype and genotype diagnosis of 6 pedigrees with inherited coagulation factor Ⅹ deficiency[J]. Journal of Diagnostics Concepts & Practice, 2020 , 19(1) : 20 -27 . DOI: 10.16150/j.1671-2870.2020.01.006

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