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

Authors :
Qiu, Chuanghua
Huang, Chunxiu
Chen, Xueyan
Gu, Dayong
Source :
Laboratory Medicine; Sep2024, Vol. 5 Issue 5, p645-648, 4p
Publication Year :
2024

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00075027
Volume :
5
Issue :
5
Database :
Complementary Index
Journal :
Laboratory Medicine
Publication Type :
Academic Journal
Accession number :
179512873
Full Text :
https://doi.org/10.1093/labmed/lmae012