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

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

doi:10.3892/mmr.2013.1841

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

Authors:
- Shu-Kai Qiao
- Han-Yun Ren
- Jin-Hai Ren
- Xiao-Nan Guo
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Affiliations: Department of Hematology, Peking University First Hospital, Beijing 100034, P.R. China, Department of Hematology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China
Published online on: December 4, 2013 https://doi.org/10.3892/mmr.2013.1841
Pages: 466-470
Copyright: © Qiao et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

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. IgG inhibitory antibodies against FVIII were undetected. A compound heterozygote mutation of the FVIII gene (F8) was found in this patient. The p.Val502Asp mutation, which has been reported previously, affects A2 domain function. A novel missense point mutation, p.Met1093Ile, was identified in the B domain. The compound heterozygote mutations in F8, p.Val502Asp and p.Met1093Ile, caused HA in this female patient, with a moderate phenotype.

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