Christmas disease

Congenital deficiency of Factor IX results in hemophilia B, also known as Christmas disease, and is inherited in a sex-linked recessive manner. Instmctive is the fact that some female carriers are symptomatic. Combined deficiencies of Factors VIIFC and IX have been described. 

Factor IX 415 amino acids glycosylated modified residues Mammalian cells Treatment of Christmas disease Approved for sale Must be made in mammalian cells since glycosylation and conversion of first 12 glutamate residues to pyroglutamate essential for activity... 

Hemophilia A and B are coagulation disorders that result from defects in the genes encoding for plasma coagulation proteins. Hemophilia A (classic hemophilia) is caused by the deficiency of factor VIII, and hemophilia B (Christmas disease) is caused by the deficiency of factor IX. The incidences of hemophilia A and B are estimated at 1 in 5000 and 1 in 30,000 male births, respectively. Both types of hemophilia are evenly distributed across all ethnic and racial groups.1... 

Individuals who display a deficiency of factor IX develop haemophilia B, also known as Christmas disease. Although its clinical consequences are very similar to that of a deficiency of factor VIII, its general incidence in the population is far lower. Persons suffering from haemophilia B are treated by i.v. administration of a concentrate of factor IX. This was traditionally obtained by fractionation of human blood. Recombinant factor IX is now also produced in genetically engineered CHO cells (Table 12.2 and Box 12.1). 

Giangrande, P. 2005. Haemophila B Christmas disease. Expert Opinion on Pharmacotherapy 6(9), 1517-1524. 

Haemophilia B is also known as Christmas disease. It is caused by absence of factor K. It was called Christmas disease because this was the surname of the first patient diagnosed with type B and the case was first published in the Christmas edition of the British Medical Journal. 

VIII.c. Factor IX Deficiency - Christmas Disease or Haemophilia B... 

B. Indications and use BeneFix is intended for the prevention and control of excessive, potentially life-threatening bleeding in patients with hemophilia B, including control and prevention of bleeding in the surgical setting. Patients with hemophilia B, also known as Christmas disease, are unable to form blood clots adequately because of a deficiency or defect in clotting factor IX. Treatment with factor IX products corrects the defect temporarily. 

IX Hemophilia Christmas disease 30-50% 100% for major bleeding or trauma 24 hours Recombinant factor IX products Plasma-derived high purity concentrates... 

Danazol has also been used in the treatment of fibrocystic disease of the breast and hematologic or allergic disorders, including hemophilia, Christmas disease, idiopathic thrombocytopenic purpura, and angioneurotic edema. 

Factor IX 18-24 h) should be used for bleeding that is more than minor in haemophilia B (Christmas disease). Administration of each imit of factor IX per kg body weight raises the plasma level by 1%. Maintenance doses are required every 18-24 h. 

Forbes CD, Barr RD, Reid G, Thomson C, Prentice CR, McNicol GP, Douglas AS. Tranexamic acid in control of haemorrhage after dental extraction in haemophilia and Christmas disease. BMJ 1972 2(809) 311-13. 

A (congenital or acquired) and type 1 von Willebrand disease, in which the VWF protein structure is normal but the plasma concentration is reduced (1). By contrast with conventional coagulation factor concentrates, desmopressin is cheap and is free from the risk of transmission of viral infections, which have proved such a problem in the past. It is also very useful in the treatment of carriers of hemophilia A, many of whom have significant reductions in the baseline concentration of factor VIII. By contrast, desmopressin has no effect on the concentration of factor IX, and is thus of no value in hemophilia B (Christmas disease). It is also of little value in type 2 (abnormal VWF structure) von Willebrand s disease, which accounts for about 15-20% of all cases. The administration of desmopressin to patients with type 2B von Willebrand s disease can be hazardous, as it is likely to cause thrombocytopenia (2). The use of desmopressin in bleeding disorders has been reviewed (3). Tachyphylaxis develops if desmopressin is used for prolonged periods to control bleeding disorders, because desmopressin causes release of stored factor VIII and von Willebrand factor, after which it takes time for them to accumulate again. 

Hemophilia B is rarer than hemophilia A and is sometimes called Christmas disease after Stephen Christmas, the first patient described with this disease. It is due to a mutation that prevents factor IX from activating factor VIII. However, unlike hemophilia A, factor VIII can be activated by thrombin, and so hemophilia B is less severe. 

Christmas factor, antihemophilic factor B IX Hemophilia B, Christmas disease 20-30 per 1,000,000 5 0.1 Liver 12-24 ICFH, ICFI, lEDM, HXA, IPFX FA9 HUMAN... 

M2. Matchett, M. O., and Ingram, G. I. C., The partial thromboplastin time test with kaolin. Normal range, and modifications for the diagnosis of haemophilia and Christmas disease. J. Clin. Pathol. 18, 465-471 (1965). 

There are two types haemophilia A, or classical haemophilia, is due to lack of Factor VIII and haemophilia B, or Christmas disease, is due to lack of Factor IX. 

Factor IX complex, a blood derivative with hemostatic properties, is used in factor IX deficiency (hemophilia B or Christmas disease) in patients with factor VIII inhibition, in factor VII deficiency, and in overdosage with anticoagulant (see also Tables 17 and 18 and Figure 92). 

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