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Article

Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.

Molecular medicine reports - 1 Feb 2014

Qiao Shu-Kai, Ren Han-Yun, Ren Jin-Hai, Guo Xiao-Nan

Abstract excerpt

Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an intrauterine device....

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Identifiers

PMID: 24317041
DOI: 10.3892/mmr.2013.1841
PMCID: PMC3896510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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