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Review
. 2025 May;104(5):2995-3000.
doi: 10.1007/s00277-025-06364-4. Epub 2025 Apr 21.

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review

Yu Jiao  1 , Xiaoyi Lv  1 , Xiaojing Yan  2
Affiliations
Review

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review

Yu Jiao et al. Ann Hematol. 2025 May.

Abstract

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder characterized by prolonged prothrombin time (PT) and reduced FVII coagulant activity (FVII: C). Here, we present the case of a middle-aged male patient with gastrointestinal bleeding, who exhibited prolonged PT and decreased FVII: C levels. Gene sequencing analysis revealed compound heterozygous mutations in the F7 gene: c.64G > A (p.V22I) and c.506-1G > A. Based on the laboratory results and gene sequencing, the patient was diagnosed as FVII deficiency. After adding recombinant activated FVII (rFVIIa) for several days, the laboratory indicators returned to normal and the bleeding symptoms were relieved. In subsequent validation studies, we also identified the c.506-1G > A mutation in his older sister and daughter. Importantly, this represents the first documented case where both mutations coexist concurrently. Additionally, our literature review reveals that approximately 50% of mutation types associated with congenital FVII deficiency are located on exon 9; however, there is no significant correlation between the reduction in FVII: C levels and severity of clinical symptoms based on EAHAD database analysis.

Keywords: Case report; Congenital factor VII deficiency; EAHAD; Prothrombin time.

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Conflict of interest statement

Declarations. Ethical standards and consent to publish declaration: The studies involving participant was reviewed and approved by the Ethics Committee of The First Hospital of China Medical University. The patient and his family provided their written informed consent to take part in this study. A copy of the written consent is available for review by the editorial office of this journal. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
The pedigree of the family
Fig. 2
Fig. 2
Gene sequencing and verification results. c.64G > A (p.V22I) and c.506-1G > A are marked with a red row
Fig. 3
Fig. 3
The mutation sites and the number of mutations for all cases in the EAHAD database
See this image and copyright information in PMC

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