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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.
Advances in Haemophilic Hip Joint Arthropathy
Published in K. Mohan Iyer, Hip Joint in Adults: Advances and Developments, 2018
Muhammad Zahid Saeed, Amr Saad, Haroon A. Mann, Nicholas Goddard
Haemophilia is a hereditary X-linked recessive condition affecting males [1–3]. The deficiency or absence of coagulation factor VIII causes haemophilia A, and the deficiency or absence of coagulation factor IX causes haemophilia B. Haemophilia can lead to advanced arthropathy. Haemophilic arthropathy is permanent cartilage and bone destruction occurring in patients with haemophilia as a longstanding effect of repeated haemarthrosis. Haemarthrosis can be spontaneous or result from a minor injury. Approximately 50% of haemophilia sufferers will develop a severe arthropathy [1–5].
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 .