Prolonged α-thrombin-related activation and delayed active protein C-associated degradation confer mild phenotype in a patient with severe hemophilia A with F8 p.H118R

In hemophilia A, bleeding mostly correlates with factor VIII activity (FVIII:C), although some patients show discrepancy in bleeding severity and FVIII:C. We report a novel procoagulant mechanism associated with F8 p.H118R (c.353A > G) in a young Japanese man with few bleeding episodes despite lo...

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Bibliographic Details
Published in:International journal of hematology 2022-10, Vol.116 (4), p.489-499
Main Authors: Miyashita, Ryui, Shinozawa, Keiko, Inaba, Hiroshi, Amano, Kagehiro, Kinai, Ei
Format: Article
Language:English
Subjects:
Activated protein C
Antigen-presenting cells
Antigens
Assaying
Bleeding
Chromogenic Compounds
Clotting
Coagulation
Coagulation factors
Culture Media
Degradation
Factor VIII - metabolism
Hematology
Hemophilia
Hemophilia A - genetics
Humans
Lag time
Medicine
Medicine & Public Health
Oncology
Original Article
Phenotype
Phenotypes
Protein C - genetics
Proteins
Substrates
Thrombin
Thrombin - metabolism
Waveforms
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Summary:In hemophilia A, bleeding mostly correlates with factor VIII activity (FVIII:C), although some patients show discrepancy in bleeding severity and FVIII:C. We report a novel procoagulant mechanism associated with F8 p.H118R (c.353A > G) in a young Japanese man with few bleeding episodes despite low levels of FVIII:C (
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-022-03381-1