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
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