Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency

2021 ◽  
pp. 1-5
Author(s):  
Rujiao Dong ◽  
Guoliang Chen ◽  
Yanhui Jin ◽  
Mingshan Wang ◽  
Xiaoli Cheng ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Bleeding Disorder ◽  
Sequence Conservation ◽  
The Other ◽  
Homologous Gene ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by <i>F5</i> gene mutations. The objective of this study was to investigate the p.Phe218Ser and p.Gly304Glu variants found in 2 families with hereditary FV deficiency. The FV activity (FV:C) and FV antigen (FV:Ag) were measured by clotting and ELISA, respectively. The <i>F5</i> gene and sequence conservation were analyzed by direct sequencing and ClustalX-2.1-win, respectively. One proband carried a homozygous p.Phe218Ser (c.653T&#x3e;C) mutation, with FV:C and FV:Ag decreased to 11 and 14%, respectively. The other proband carried a heterozygous p.Gly304Glu (c.911G&#x3e;A) mutation, with FV:C and FV:Ag reduced to 55 and 62%, respectively. Phe218 and Gly304 were highly conserved in the homologous gene in 9 other species. We hypothesized that the p.Phe218Ser and p.Gly304Glu variants are deleterious and responsible for the reduction in FV:C and FV:Ag.

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia

2019 ◽  
Vol 30 (5) ◽  
pp. 224-232
Author(s):  
Nouf S. Al-Numair ◽  
Khushnooda Ramzan ◽  
Mahasen Saleh ◽  
Hazzaa Alzahrani ◽  
Ahmed Tarawah ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient

2020 ◽  
Vol 31 (1) ◽  
pp. 71-76
Author(s):  
Siqi Liu ◽  
Shasha Luo ◽  
Lihong Yang ◽  
Yanhui Jin ◽  
Haixiao Xie ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Homozygous Mutation ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

scholarly journals Acquired Inhibitors of Factor V

1977 ◽  
Author(s):  
Donald I. Feinstein
Keyword(s):  
Temporal Relationship ◽  
Major Surgery ◽  
Severe Bleeding ◽  
Factor V ◽  
Inhibitor Activity ◽  
Physiochemical Properties ◽  
Hereditary Factor ◽  
Factor V Deficiency ◽  
Antigenic Material ◽  
Close Temporal Relationship

Twelve patients with an acquired inhibitor of Factor V have been reported thus far in the literature. Of these, only one occurred in a patient with hereditary Factor V deficiency. Six patients received streptomycin in close temporal relationship to the appearance of the inhibitor. Six of the patients had been previously transfused, including four of those who received streptomycin. In nine of the eleven spontaneously occurring inhibitors, major surgery preceded the appearance of the inhibitor. The degree of clinical bleeding in these patients varied. One patient had no bleeding, six patients had mild to moderate bleeding, and four patients had severe bleeding. The inhibitor disappeared in less than eight weeks in seven patients, whereas in one patient it persisted for more than two years. Most of these inhibitors have the physiochemical properties of antibodies. Six of the spontaneous inhibitors appeared to be IgG, whereas in two patients inhibitor activity was found in both IgM and IgG fractions. Three inhibitors have been typed with light chain antisera and all contained both kappa and lambda chains. Plasmas from seven patients with hereditary Factor V deficiency have been tested with three of these inhibitors for inactive factor V antigenic material and none has been detected. In addition, plasma from a patient with hereditary factor V deficiency has been tested with heterologous factor V antibody and no antigenic material has been found. Thus hereditary factor V deficiency probably represents a deficiency of factor V molecules, rather than the synthesis of a defective molecule.

Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees

Haemophilia ◽  
2004 ◽  
Vol 10 (3) ◽  
pp. 264-270 ◽  
Author(s):  
Q.-H. Fu ◽  
R.-F. Zhou ◽  
L.-G. Liu ◽  
W.-B. Wang ◽  
W.-M. Wu ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Coagulation Factor ◽  
Factor V ◽  
Factor V Deficiency ◽  
Coagulation Factor V

scholarly journals Perioperative replacement therapy for a patient with hereditary factor V deficiency.

1990 ◽  
Vol 10 (3) ◽  
pp. 294-299 ◽  
Author(s):  
Shinya UENO ◽  
Yasuhiro UMEKI ◽  
Hiroko TSUDA ◽  
Shosuke TAKAHASHI ◽  
Junichi YOSHITAKE
Keyword(s):  
Replacement Therapy ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

Hereditary factor V deficiency from heterozygous mutations with a novel variant p.Pro798Leufs*13 in the F5 gene

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yuping Deng ◽  
Jiajin Zhu ◽  
Yuxiang Gong ◽  
Xiaoqing Yi ◽  
Liyan Zhou ◽  
...  
Keyword(s):  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency ◽  
Novel Variant

Coagulation Dynamics in Factor V Deficiency: A Family Study, with a Note on the Occurrence of Thrombophlebitis, ,

1965 ◽  
Vol 13 (02) ◽  
pp. 500-515 ◽  
Author(s):  
Sherwood P. Miller ◽  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Gene ◽  
Coagulation Factors ◽  
Severe Bleeding ◽  
Factor V ◽  
Bleeding Tendency ◽  
Clinically Normal ◽  
Sequence Of Events ◽  
Factor V Deficiency

Summary1. A family with congenital proaccelerin (factor V) deficiency is here reported. The mode of inheritance appears to be by means of an autosomal recessive gene. The homozygous propositus (proaccelerin less than 2% of normal) had a life-long, moderately severe, bleeding tendency. The heterozygotes (proaccelerin 45 to 66%) were clinically normal.2. Studies on the rate of consumption of coagulation factors during blood clotting revealed normal consumption of antihemophilic globulin (factor VIII), but defective consumption of prothrombin (II) in the propositus. This indicated the entry of proaccelerin into the clotting process between the stages at which antihemophilic globulin and prothrombin are involved. Five of the seven heterozygotes studied showed a similar pattern. These findings are consistent with current theories of the role of proaccelerin in the normal sequence of events in the coagulation scheme.3. The propositus had an episode of thrombosis of the deep saphenous vein which is apparently a unique occurence in the literature of proaccelerin deficiency.

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