Merry Christmas for Patients with Hemophilia B

From the Departments of Internal Medicine and Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis.
New England Journal of Medicine (Impact Factor: 55.87). 12/2011; 365(25):2424-5. DOI: 10.1056/NEJMe1111138
Source: PubMed


Hemophilia B (also known as Christmas disease) is due to deficiency of coagulation factor IX (FIX). In this issue of the Journal, Nathwani et al. report the first unequivocal evidence of successful gene therapy for hemophilia B - a major advance in this field.(1) This success for hemophilia may translate into gene therapy for other blood protein deficiencies. Hemophilia is due to deficiency in a coagulation factor and results in a bleeding disorder that often involves joints and muscles. The most common types are hemophilia A and B, which are due to deficiencies of factor VIII and FIX, respectively, and . . .

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    • "Improved pharmacokinetics properties of coagulation factors have also been obtained through molecule modification by genetic fusion with albumin and the IgG Fc moiety [27,28]. In the last decade the ultimate goal of the investigators has been the search of the definitive cure through gene transfer of the underlying DNA defect [11,29]. The most promising clinical results in haemophilia currently are for haemophilia B, where intravenous infusion of an adeno-associated viral (AAV) vector encoding factor IX (FIX) under the control of a liver-restricted promoter has resulted in expression of FIX at plateau levels ranging from 1% to 6%, for periods of 2 years, in 6 adult males with severe haemophilia B [30]. "
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    ABSTRACT: The hemophilias are the most common X-linked inherited bleeding disorders. The challenges in children are different from that in adults and, If not properly managed, can lead to chronic disease and lifelong disabilities. Currently, inhibitors are the most severe complication and prophylaxis is emerging as the optimal preventive care strategy. Quality of life has become in the western countries the primary objective of the process of providing care, thus all the strategies (psychotherapy, physiotherapy, community life), not just the infusion of the missing factor, should be activated for the patient and family to give them the perception of being healthy.
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