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Hematological Disorders in Children pp 189–204Cite as

Pathogenesis and Treatment of Hemophilia

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Abstract

Hemophilia A and B are congenital inherited bleeding disorders, occurred by genetic abnormalities of blood coagulation factor (F)VIII and FIX molecules, respectively. The clinical abnormality is associated with bleeding episodes affecting especially joints and muscles, and repeated hemorrhage results in chronic arthropathy finally associated with loss of joint movement. The current hemostatic treatment is the replacement therapy of plasma-derived or recombinant (r)FVIII or FIX concentrates with on demand or prophylaxis. Development of this therapy had improved the quality of life of hemophiliacs more dramatically than before. The primary and secondary prophylaxis is recently becoming widespread for the prevention of arthropathy. There remain some issues such as frequent intravenous injection, however. Extended half-life rFVIII and rFIX concentrates have been recently developed, and some products are available. However, in 20–30% of severe hemophilia A and 3–5% of hemophilia B which had multi-transfused, anti-FVIII (FIX) alloantibodies (inhibitors) appeared, resulting in difficulty of hemostatic management. Immune tolerance induction therapy to eradicate inhibitors has been actively conducted. The bypassing agent therapy is treated for hemophilia patients with inhibitor. Subcutaneous injection therapy such as FVIII-mimetic bispecific antibody or gene therapy is currently ongoing in the clinical trials for the future prospective therapy.

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Authors and Affiliations

  1. Department of Pediatrics, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan

    Keiji Nogami M.D., Ph.D. & Midori Shima

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  1. Keiji Nogami M.D., Ph.D.
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  2. Midori Shima
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Correspondence to Keiji Nogami M.D., Ph.D. .

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  1. Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, Ehime, Japan

    Eiichi Ishii

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Nogami, K., Shima, M. (2017). Pathogenesis and Treatment of Hemophilia. In: Ishii, E. (eds) Hematological Disorders in Children. Springer, Singapore. https://doi.org/10.1007/978-981-10-3886-0_9

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  • DOI: https://doi.org/10.1007/978-981-10-3886-0_9

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