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Hemophilia A

  • Mohammad Saeed Gholami
  • Mohsen Valikhani
  • Akbar Dorgalaleh
  • Sayed Hamid Mousavi
  • Behnaz Pezeshkpoor
Chapter

Abstract

Hemophilia A is an inherited X-linked recessive bleeding disorder that accounts for about 80% of cases of hemophilia, occurs in ~5 to ~20 per 100,000 male births, and is caused by a defect or deficiency in coagulation factor VIII (FVIII). Hemophilia A is due to different mutations in F8 gene; among them, intron 22 inversion, which leads to severe hemophilia A, is the most common. Patients with hemophilia A present different complications; among them abnormal bleeding in joints, and soft tissue is the most common. Different therapeutic choices are available for the patients including fresh frozen plasma (FFP), cryoprecipitate, plasma-derived FVIII concentrate, and various recombinant FVIII (rFVIII) concentrates. The only curative choice is gene therapy that can lead to lifelong eliminating of the disorder. With current therapeutic choices and supportive care, quality of life in patients with hemophilia A is significantly improved.

Keywords

Hemophilia A Genetic diseases X-linked Factor VIII deficiency Gene therapy, Bleeding 

Notes

Acknowledgment

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

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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Mohammad Saeed Gholami
    • 2
    • 1
  • Mohsen Valikhani
    • 2
  • Akbar Dorgalaleh
    • 2
  • Sayed Hamid Mousavi
    • 3
    • 4
  • Behnaz Pezeshkpoor
    • 5
  1. 1.Student Research CommitteeSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  2. 2.Department of Hematology and Blood TransfusionSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  3. 3.Department of the Clinical BiochemistryFaculty of Medical Sciences, Kateb UniversityKabulAfghanistan
  4. 4.Afghanistan National Charity Organization for Special Diseases (ANCOSD)KabulAfghanistan
  5. 5.Institute of Experimental Hematology and Transfusion Medicine, University of BonnBonnGermany

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