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Published in Braithwaite Jeffrey, Mannion Russell, Matsuyama Yukihiro, Shekelle Paul, Whittaker Stuart, Al-Adawi Samir, Health Systems Improvement Across the Globe: Success Stories from 60 Countries, 2017
Hemophilia is an inherited disease caused by the lack of a specific clotting factor in blood, which leads to significant and sometimes life-threatening bleeding. Intravenous infusion of the missing clotting factor is used to treat and prevent bleeds. Regular infusion of clotting factor to prevent bleeding is called “prophylaxis” and is usually self-administered at home by the patient or a family member. Prophylaxis from childhood is proven to prevent the development of severe joint disease and disability. Modern prophylaxis means that people with hemophilia can achieve their full potential, including taking part in sports, education, and the workforce. Effective prophylaxis is tailored to the bleed rate and activity level of each individual patient.
Tissue Fabrication and Regeneration by Cell Sheet Technology
Published in Gilson Khang, Handbook of Intelligent Scaffolds for Tissue Engineering and Regenerative Medicine, 2017
Yuji Haraguchi, Tatsuya Shimizu, Masayuki Yamato, Teruo Okano
Hemophilia is a congenital bleeding disorder caused by a failure to produce specific coagulation factors (factor VIII [FVIII] or factor IX [FIX]), and more than half a million people suffer from this disease worldwide.144 In the current standard treatment for hemophilia, an infusion of plasma-derived or recombinant human FVIII or FIX concentrates is used.145 Although this replacement therapy has improved the management of bleeding in many hemophilia patients, they also have several other issues, namely the requirement of lifelong intravenous infusion, the high costs of coagulation factor concentrates, etc. Gene therapy has also been used as an alternative therapy, and clinical studies have been performed.146,147 The therapeutic effects of hepatocyte-based cell therapies for hemophilia are investigated by using small-animal models.148,149Cell sheet technology have also been used for treating hemophilia. Cell sheets have been made with FVIII-transduced blood outgrowth endothelial cells (BOECs), and BOEC sheets have been transplanted subcutaneously in hemophilia A mice.150 At 3 weeks after the transplantation, plasma FVIII levels up to 11% of normal are observed in the hemophilia A mice, and these levels are maintained for a follow-up period of 300 days. A tail-clipping test shows that bleeding time is significantly shortened in hemophilia A mice which received BOEC sheet therapy, comparable to that of wild-type mice. For aiming to treat hemophilia B, human FIX-transduced adipose-derived MSC sheets have also been fabricated.151 These results show that the combination of cell sheet technology and genetic engineering will be a powerful tool for hemophilia therapy.
When sex matters: a complete model of X-linked diseases
Published in International Journal of General Systems, 2018
C. Del Vecchio, F. Verrilli, L. Glielmo
In what follows, we apply the continuous-time model (7)–(6) to the haemophilia A, a hereditary bleeding disorder caused by a lack of blood clotting factor VIII, a protein encoded by FVIII gene placed on the X chromosome. It is largely an inherited disorder, that is the spontaneous gene mutation rate of the diseases can be considered negligible (Becker et al. 1996), therefore we can set . Affected males show a reduced reproduction capacity related to the severity of the disease symptoms; carrier females do not usually show any sign of the disease (Bowen 2002). Due to the severity of the disease, one can assign fertility factors equal to zero () to affected individuals; according to clinical considerations, the fertility factors of the other classes have been fixed at the following values: and .