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Semin Thromb Hemost 2019; 45(05): 523-543
DOI: 10.1055/s-0039-1687906
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency

Shadi Tabibian
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
,
Yavar Shiravand
2   Department of Hematology and Blood Transfusion, School of Allied Medicine, Tehran University of Medical Sciences, Tehran, Iran
,
Mahmood Shams
3   Department of Medical Laboratory, Faculty of Paramedical Sciences, Babol University of Medical Sciences, Babol, Iran
,
Majid Safa
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
,
Mohammad Saeed Gholami
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
,
Farshad Heydari
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
,
Abbas Ahmadi
4   Cellular and Molecular Research Center, Research Institute for Health Development, Department of Molecular Medicine and Genetics, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran
,
Jamal Rashidpanah
5   Tehran University of Medical Sciences, Shariati Hospital, Tehran, Iran
,
Akbar Dorgalaleh
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
› Institutsangaben
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Publikationsverlauf

Publikationsdatum:
23. Mai 2019 (online)

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Abstract

Coagulation factor (F) V is a glycoprotein that plays an essential role in the formation of the prothrombinase complex, which is critical for progressing clot formation. FV deficiency is a rare bleeding disorder with an estimated incidence of one per 1 million in the general population. The disorder is manifested with a wide array of clinical bleeding events. The most common bleeding features of FV deficiency are mucosal bleedings. Life-threatening manifestations are rarely seen in this disorder. FV deficiency is diagnosed using routine coagulation tests and FV activity assay. A wide spectrum of mutations including missense, nonsense, and frameshift is observed throughout the F5 gene. Although fresh frozen plasma is the dominant therapeutic choice, a newly introduced plasma-derived FV concentrate was found effective in in vitro correction of prothrombin time, activated partial thromboplastin time, and thrombin generation parameters in severe FV deficiency and should provide more targeted treatment for patients with FV deficiency in the future.

Keywords

factor V deficiency - molecular basis - clinical manifestations
 

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