Christmas factor deficiency

Christmas factor deficiency Hereditary retinal degenerative diseases... 

Genetically, determined clotting diseases include classical haemophilia, which is due to lack of factor VIII, and there is another form of haemophilia due to deficiency of factor IX (Christmas factor). These are treated by giving fresh donor blood or plasma, preparations of factor VIII or factor IX, or increasingly as one of the recombinant versions which are becoming available. 

Clotting may be inhibited or disturbed in several ways. The well-known bleeding condition hemophilia is caused by the absence (or inactivity) of any one component of the thrombokinase system from blood, i.e. of some plasma factor. In classical hemophilia A it is factor VIII (antihemophilic globulin) in hemophilia B, factor IX (Christmas factor). Due to a deficiency in these factors insufficient amounts of plasma thrombokinase are formed, and consequently the transition prothrombin —> thrombin is delayed greatly or even prevented. 

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. 

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). 

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. 

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). 

---