Past, present and future of hemophilia

A narrative review

Massimo Franchini, Pier Mannuccio Mannucci

Research output: Contribution to journalArticle

96 Citations (Scopus)

Abstract

Over the past forty years the availability of coagulation factor replacement therapy has greatly contributed to the improved care of people with hemophilia. Following the blood-borne viral infections in the late 1970s and early 1980, caused by coagulation factor concentrates manufactured using non-virally inactivated pooled plasma, the need for safer treatment became crucial to the hemophilia community. The introduction of virus inactivated plasma-derived coagulation factors and then of recombinant products has revolutionized the care of these people. These therapeutic weapons have improved their quality of life and that of their families and permitted home treatment, i.e., factor replacement therapy at regular intervals in order to prevent both bleeding and the resultant joint damage (i.e. primary prophylaxis). Accordingly, a near normal lifestyle and life-expectancy have been achieved. The main current problem in hemophilia is the onset of alloantibodies inactivating the infused coagulation factor, even though immune tolerance regimens based on long-term daily injections of large dosages of coagulation factors are able to eradicate inhibitors in approximately two-thirds of affected patients. In addition availability of products that bypass the intrinsic coagulation defects have dramatically improved the management of this complication. The major challenges of current treatment regimens, such the short half life of hemophilia therapeutics with need for frequent intravenous injections, encourage the current efforts to produce coagulation factors with more prolonged bioavailability. Finally, intensive research is devoted to gene transfer therapy, the only way to ultimately obtain cure in hemophilia.

Original languageEnglish
Article number24
JournalOrphanet Journal of Rare Diseases
Volume7
Issue number1
DOIs
Publication statusPublished - 2012

Fingerprint

Hemophilia A
Blood Coagulation Factors
Therapeutics
Isoantibodies
Immune Tolerance
Weapons
Virus Diseases
Life Expectancy
Intravenous Injections
Genetic Therapy
Biological Availability
Half-Life
Life Style
Joints
Quality of Life
Hemorrhage
Viruses
Injections
Research

Keywords

  • FIX
  • FVIII
  • Gene therapy
  • Plasma-derived factor concentrates
  • Recombinant factor concentrates

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Past, present and future of hemophilia : A narrative review. / Franchini, Massimo; Mannucci, Pier Mannuccio.

In: Orphanet Journal of Rare Diseases, Vol. 7, No. 1, 24, 2012.

Research output: Contribution to journalArticle

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