The identification of a novel compound heterozygous mutation in hereditary human coagulation factor VII deficiency following a bamboo leaf green snake bite

被引:0
|
作者
Qiu, Chuanghua [1 ]
Huang, Chunxiu [1 ]
Chen, Xueyan [2 ]
Gu, Dayong [1 ]
机构
[1] Shenzhen Second Peoples Hosp, Dept Lab Med, Shenzhen, Peoples R China
[2] Peoples Hosp Longhua Shenzhen, Dept Clin Lab, Shenzhen, Peoples R China
关键词
identification; novel; compound; heterozygous; mutation; hereditary;
D O I
10.1093/labmed/lmae012
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Hereditary factor VII (FVII) deficiency is an uncommon autosomal recessive disorder associated with mutations in the F7 gene, and laboratory investigations usually reveal isolated prolongation in prothrombin time (PT)/international normalized ratio (INR). Venom-induced consumptive coagulopathy (VICC) is distinguished by the activation of the coagulation pathway, which is triggered by procoagulant toxins in snake venom. Diagnosing snakebites in patients with hereditary FVII deficiency presents a challenge because prolonged time PT/INR is considered the most valuable diagnostic method for VICC. Therefore, it is possible that certain patients may not promptly receive an accurate diagnosis of hereditary FVII deficiency. We present a pedigree featuring hereditary FVII deficiency, which was diagnosed through Sanger sequencing, following a bamboo leaf green snake bite.
引用
收藏
页码:645 / 648
页数:4
相关论文
共 39 条
  • [1] Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report
    Cai, Ruimin
    Li, Yi
    Xu, Wei
    Gao, Xue
    Feng, Qiang
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2023, 37 (01)
  • [2] A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency
    Hu, Ya-Nan
    Gan, Yu-Mian
    Zhang, Yan-Ping
    Ruan, Dan-Dan
    Zhu, Yao-Bin
    Lin, Xin-Fu
    Fang, Zhu-Ting
    Liao, Li-Sheng
    Tang, Fa-Qiang
    Luo, Jie-Wei
    JOURNAL OF GENE MEDICINE, 2022, 24 (02):
  • [3] Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation
    Lee, Sun-Min
    Heo, Yong-Seok
    Lee, Eun-Yup
    Chang, Chulhun L.
    Shin, Ho-Jin
    Chung, Joo-Seop
    Hwang, Sang-Hyun
    BLOOD COAGULATION & FIBRINOLYSIS, 2008, 19 (01) : 92 - 94
  • [4] Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency
    Zhang, Xiaoyu
    Wang, Shuwen
    Leng, Shaoqiu
    Feng, Qi
    Zhang, Yanqi
    Xu, Shuqian
    Zhang, Lei
    Zhang, Xinsheng
    Fang, Yunhai
    Peng, Jun
    Sheng, Zi
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2021, 35 (09)
  • [5] Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization
    Cassel, Aliza
    Rosenberg, Nurit
    Muhammad, Emad
    Livnat, Tami
    Dardik, Rima
    Berl, Miriam
    Preis, Meir
    RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS, 2021, 5 (04)
  • [6] A case with reduced coagulation factor VII level caused by novel compound heterozygous mutations
    Seki, R.
    Yoko, S.
    Takata, Y.
    Osaki, K.
    Nagafuji, K.
    Okamura, T.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 699 - 700
  • [7] Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree
    Li, Qian
    Zeng, Hui
    Xu, Yong
    Zhou, Min
    Chen, Bing
    Zhou, Rong-Fu
    BLOOD, 2018, 132
  • [8] Identification of a Novel Coagulation Factor X Compound Heterozygous Mutation Associated with Differential Initiating Clotting Pathway Function
    Vanden Hoek, Amanda L.
    Talbot, Kimberley
    Carter, Isis
    Vickars, Linda
    Carter, Cedric John
    MacGillivray, Ross T. A.
    Pryzdial, Ed L. G.
    BLOOD, 2010, 116 (21) : 490 - 490
  • [9] Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification
    Lin, Fen
    Weng, Miao-Shan
    Wu, Jiao-Ren
    Fang, Sen-Hai
    Yang, Li-Ye
    BLOOD COAGULATION & FIBRINOLYSIS, 2020, 31 (02) : 160 - 164
  • [10] A novel compound heterozygous mutation in the F13A gene causing hereditary factor XIII deficiency in a Chinese family
    Wu, S
    Wang, Z
    Dong, N
    Bai, X
    Ruan, C
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2006, 4 (01) : 267 - 269