Chapter 3

Haematological Care of the Haemophilic Patient

Giancarlo Castaman and Silvia Linari

Abstract

Haemophilia A and B are X-linked recessive coagulation disorders resulting from the deficiency or abnormal function of either factor VIII or IX, respectively. Musculoskeletal bleedings, particularly joint bleeding, are the hallmark of severe Haemophilia. Recurrent joint bleedings lead to arthropathy and functional disability. Haemophilia can be treated either on demand to stop bleeding or with prophylaxis to prevent joint damage. A variety of high-quality clotting concentrates are available for patients with Haemophilia and long-acting concentrates are becoming available, with further improvements in the treatment of this potentially disabling disease. Also gene therapy is an impressive promise of cure for the patients, especially those with Haemophilia B. Currently, the development of alloantibodies directed against FVIII or FIX, able to neutralize their clotting activity, and making replacement therapy ineffective represents the most serious challenge of the treatment. A comprehensive care of patients with Haemophilia should be provided by a multidisciplinary team, offering the more appropriate and innovative therapies for Haemophilia and its complications.

Total Pages: 25-40 (16)

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