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Hemophilia A: Diagnosis and Management

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Congenital Bleeding Disorders

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Abstract

Hemophilia A is an inherited X-linked recessive bleeding disorder that accounts for about 80% of cases of hemophilia, occurs in ~5 and ~20 per 100,000 male births, and is caused by a defect or deficiency in coagulation factor VIII (FVIII). Hemophilia A is caused by a variety of mutations in the FVIII gene, the most common of that is intron 22 inversion, which results in severe hemophilia A. The most frequent bleeding sites in hemophilia A patients are joints and soft tissues. Inhibitor development and viral transmission risk are serious complications that can be fatal. Fresh frozen plasma and cryoprecipitate were previously used to treat hemophilic bleeding. Plasma-derived FVIII concentrates, recombinant FVIII concentrates, extended half-life concentrates, and non-factor replacement agents are now available. These non-factor drugs can be given subcutaneously instead of intravenously. Gene therapy is the only curative option, and it has recently been used successfully in selected hemophilia A patients. Current therapeutic options and supportive care significantly improve hemophilia A patients’ quality of life.

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Acknowledgments

We appreciate Professor Edward Tuddenham for his valuable comments that significantly improved the quality of this chapter.

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Authors and Affiliations

  1. Department of Pediatric Hematology, Faculty of Medicine, Gazi University, Ankara, Turkey

    Zühre Kaya

  2. Tehran, Iran

    Nader Safarian

  3. Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Bonn, Germany

    Behnaz Pezeshkpoor

  4. Colorado Coagulation, Laboratory Corporation of America® Holdings Englewood, CO, USA

    Dorothy M. Adcock

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  1. Zühre Kaya
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  2. Nader Safarian
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  3. Behnaz Pezeshkpoor
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  4. Dorothy M. Adcock
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Corresponding author

Correspondence to Dorothy M. Adcock .

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Editors and Affiliations

  1. Hamin Pazhuhan Tis Institute, Tehran, Iran

    Akbar Dorgalaleh

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Kaya, Z., Safarian, N., Pezeshkpoor, B., Adcock, D.M. (2023). Hemophilia A: Diagnosis and Management. In: Dorgalaleh, A. (eds) Congenital Bleeding Disorders . Springer, Cham. https://doi.org/10.1007/978-3-031-43156-2_4

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  • DOI: https://doi.org/10.1007/978-3-031-43156-2_4

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