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Article

The p. Arg1800His Mutation of Factor VIII Results in Moderate Hemophilia A Due to Defective Processing and Stability of Functional Protein.

Cell biology international - 1 May 2026

Wang Han, Tian Jiaqi, Zhang Ming, Zhang Liyuan, Liu Chunxia, Niu Lu, Jia Wenjuan

Abstract excerpt

Haemophilia A (HA) is a rare congenital, recessive X-linked bleeding disorders caused by the lack or deficiency of clotting factor VIII (FVIII). Missense variants, which can alter protein structure, conformation and immunogenicity, are found in nearly all individuals with mild or moderate hemophilia A but in fewer than 20% of those with the severe form. Here, we identified a 26-year-old man with a hemizygous F8...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42132504
DOI: 10.1002/cbin.70164

Genes

F8
PDIA5
XBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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