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Factor VIII Deficiency

General

Disease Name
Factor VIII Deficiency
Disease Name 2
Hemophilia A
OMIA
437
Gene Name
FVIII
Mutation
c.1412C>G
Mutation 2
c.1643G>A
Mutation 3
p.Cys548Tyr
OMIM
306700
Test Type
Genetic Disease/Disorder
Details
Factor XIII deficiency causes an impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked.
Details 2
Factor XIII deficiency causes an impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked.
Published
Hough, C., Kamisue, S., Cameron, C., Notley, C., Tinlin, S., Giles, A., Lillicrap, D. : Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: Similarities with the intron 22 inversion mutation in human hemophilia Thrombosis & Haemostasis 87:659-665, 2002. Pubmed reference: 12008949.
Published 2
Lozier, J.N., Nichols, T.C. : Animal Models of Hemophilia and Related Bleeding Disorders. Semin Hematol 50:175-184, 2013. Pubmed reference: 23956467. DOI: 10.1053/j.seminhematol.2013.03.023.
Published 3
Lozier, J.N., Dutra, A., Pak, E., Zhou, N., Zheng, Z.L., Nichols, T.C., Bellinger, D.A., Read, M., Morgan, R.A. : The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion Proceedings of the National Academy of Sciences of the United States of America 99:12991-12996, 2002. Pubmed reference: 12242334. DOI: 10.1073/pnas.192219599.
Body/System/Process
Blood
Inheritance
XR
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