Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2012:105:151-209.
doi: 10.1016/B978-0-12-394596-9.00006-8.

Animal models of hemophilia

Affiliations
Review

Animal models of hemophilia

Denise E Sabatino et al. Prog Mol Biol Transl Sci. 2012.

Abstract

The X-linked bleeding disorder hemophilia is caused by mutations in coagulation factor VIII (hemophilia A) or factor IX (hemophilia B). Unless prophylactic treatment is provided, patients with severe disease (less than 1% clotting activity) typically experience frequent spontaneous bleeds. Current treatment is largely based on intravenous infusion of recombinant or plasma-derived coagulation factor concentrate. More effective factor products are being developed. Moreover, gene therapies for sustained correction of hemophilia are showing much promise in preclinical studies and in clinical trials. These advances in molecular medicine heavily depend on availability of well-characterized small and large animal models of hemophilia, primarily hemophilia mice and dogs. Experiments in these animals represent important early and intermediate steps of translational research aimed at development of better and safer treatments for hemophilia, such a protein and gene therapies or immune tolerance protocols. While murine models are excellent for studies of large groups of animals using genetically defined strains, canine models are important for testing scale-up and for long-term follow-up as well as for studies that require larger blood volumes.

PubMed Disclaimer

Similar articles

Cited by

References

    1. Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA. Molecular etiology of factor VIII deficiency in hemophilia A. Adv Exp Med Biol. 1995;386:19–34. - PubMed
    1. Elder B, Lakich D, Gitschier J. Sequence of the murine factor VIII cDNA. Genomics. 1993;16:374–379. - PubMed
    1. Brinkhous KM, Graham JB. Hemophilia in the female dog. Science. 1950;111:723–724. - PubMed
    1. Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature. 1984;312:326–330. - PubMed
    1. Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH., Jr Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet. 1995;10:119–121. - PubMed