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Thromb Haemost 2000; 84(04): 635-637
DOI: 10.1055/s-0037-1614079
Review Article
Schattauer GmbH

Homozygous 2bp Deletion in the Human Factor VII Gene: A Non-Lethal Mutation that Is Associated with a Complete Absence of Circulating Factor VII

Flora Peyvandi
1   From the Haemophilia Centre and Haemostasis Unit, Department of Haematology, Royal Free & University College Medical School, Royal Free Campus, London, UK
2   Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy
,
Pier M. Mannucci
2   Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy
,
P. Vince Jenkins
1   From the Haemophilia Centre and Haemostasis Unit, Department of Haematology, Royal Free & University College Medical School, Royal Free Campus, London, UK
,
Anselm Lee
3   Department of Paediatrics, Tuen Mun Hospital, New Territories, Hong Kong, China
,
Raffaella Coppola
2   Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy
,
David J. Perry
1   From the Haemophilia Centre and Haemostasis Unit, Department of Haematology, Royal Free & University College Medical School, Royal Free Campus, London, UK
› Author AffiliationsThis work was supported by the Katharine Dormandy Trust for Haemophilia and Allied Disorders and the Fondazione Angelo Bianchi Bonomi. We are grateful to Professor EGD Tuddenham for helpful suggestions and comments.
Further Information

Publication History

Received 29 September 1999

Accepted after revision 02 May 2000

Publication Date:
11 December 2017 (online)

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Summary

We report the case of a 5-year-old boy with severe factor VII deficiency. The affected child presented at the age of 8 months and again at 18 months with bleeding from the gastrointestinal tract but the diagnosis of factor VII deficiency was not made until the age of 3 years. He was treated with fresh frozen plasma and subsequently factor VII concentrates and to date remains well. To identify the causative mutation, the factor VII gene was screened by SSCP and direct sequence analysis. A single homozygous 2bp deletion (-CT) mutation was identified in exon 1a removing nucleotides 27/28 (codons 52/53). Both parents, who were first cousins, were heterozygous for the mutation. The mutation located in the prepropeptide of factor VII, results in a complete absence of factor VII in plasma. This case indicates that a complete absence of plasma factor VII is not necessarily a lethal condition.

Key words

FVII - mutation - deletion
 

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