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MeSH Review

Hemophilia B

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Disease relevance of Hemophilia B


High impact information on Hemophilia B

  • DXS102 is close to the hemophilia-B locus (z[theta] = 13.6 at theta = .02) and might thus be used as an alternative probe for diagnosis in Hemophila-B families not informative for intragenic RFLPs [6].
  • We report a quantitative protein C deficiency combined with a factor IX deficiency in a one-year-old boy [7].
  • Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis [8].
  • Previously, from the plasma of unrelated haemophilia-B patients, we isolated two non-functional Factor IX variants, namely Los Angeles (IXLA) and Long Beach (IXLB) [9].
  • Prevention of a secondary response to factor IX by cyclophosphamide was attempted in an 11 year old patient with severe Christmas disease [10].

Chemical compound and disease context of Hemophilia B


Gene context of Hemophilia B


Analytical, diagnostic and therapeutic context of Hemophilia B


  1. Permanent phenotypic correction of hemophilia B in immunocompetent mice by prenatal gene therapy. Waddington, S.N., Nivsarkar, M.S., Mistry, A.R., Buckley, S.M., Kemball-Cook, G., Mosley, K.L., Mitrophanous, K., Radcliffe, P., Holder, M.V., Brittan, M., Georgiadis, A., Al-Allaf, F., Bigger, B.W., Gregory, L.G., Cook, H.T., Ali, R.R., Thrasher, A., Tuddenham, E.G., Themis, M., Coutelle, C. Blood (2004) [Pubmed]
  2. Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree. Pekkarinen, P., Terwilliger, J., Bredbacka, P.E., Lönnqvist, J., Peltonen, L. Genome Res. (1995) [Pubmed]
  3. Efficient transfection of primary cells in a canine hemophilia B model using adenovirus-polylysine-DNA complexes. Lozier, J.N., Thompson, A.R., Hu, P.C., Read, M., Brinkhous, K.M., High, K.A., Curiel, D.T. Hum. Gene Ther. (1994) [Pubmed]
  4. Inherited bleeding syndromes in Iraq. Al-Mondhiry, H.A. Thromb. Haemost. (1977) [Pubmed]
  5. Hypercalcemia associated with normal 1,25-dihydroxyvitamin D concentrations in a neonate with factor IX deficiency. Schwartz, I.D., Root, A.W. J. Pediatr. (1989) [Pubmed]
  6. Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families. Arveiler, B., Oberlé, I., Vincent, A., Hofker, M.H., Pearson, P.L., Mandel, J.L. Am. J. Hum. Genet. (1988) [Pubmed]
  7. Increased thrombin generation in a child with a combined factor IX and protein C deficiency. Negrier, C., Berruyer, M., Durin, A., Philippe, N., Dechavanne, M. Blood (1993) [Pubmed]
  8. Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. Taylor, S.A., Duffin, J., Cameron, C., Teitel, J., Garvey, B., Lillicrap, D.P. Thromb. Haemost. (1992) [Pubmed]
  9. Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins. Spitzer, S.G., Warn-Cramer, B.J., Kasper, C.K., Bajaj, S.P. Biochem. J. (1990) [Pubmed]
  10. Failure of immunosuppression in a severe haemophilia B patient with specific antibody. Allain, J.P., Frommel, D. Thromb. Haemost. (1976) [Pubmed]
  11. Re: tranexamic acid and bleeding: a double-blind cross-over study on three brothers with Christmas disease (factor IX deficiency). Black, E.A. Thromb. Haemost. (1976) [Pubmed]
  12. Acute hepatitis in a patient with mild factor IX deficiency after anesthesia with isoflurane. Grégoire, S., Smiley, R.K. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne. (1986) [Pubmed]
  13. Haemorrhage and factor IX deficiency in pituitary insufficiency. Woodcock, B.E., Preston, F.E. Acta Haematol. (1983) [Pubmed]
  14. Drug therapy reviews: clinical use of hemostatic agents. Lowe, G.D., Lawson, D.H. American journal of hospital pharmacy. (1978) [Pubmed]
  15. Mesenteric venous thrombosis. Harward, T.R., Green, D., Bergan, J.J., Rizzo, R.J., Yao, J.S. J. Vasc. Surg. (1989) [Pubmed]
  16. Chronic liver dysfunction in multitransfused hemophiliacs. Hasiba, U.W., Spero, J.A., Lewis, J.H. Transfusion (1977) [Pubmed]
  17. Importance of factor-IX-dependent prothrombinase formation--the Josso pathway--in clotting plasma. Xi, M., Béguin, S., Hemker, H.C. Haemostasis (1989) [Pubmed]
  18. Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment. Jagadeeswaran, P., Lavelle, D.E., Kaul, R., Mohandas, T., Warren, S.T. Somat. Cell Mol. Genet. (1984) [Pubmed]
  19. Orthotopic liver transplantation for hepatitis C infection: the best Christmas present? Johnston, S.D., McNulty, O., Mayne, E., Callender, M.E. The Ulster medical journal. (1998) [Pubmed]
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