Hemophilia A (factor VIII deficiency)

Record ID 32011001340
English
Authors' objectives:

Hemophilia A is an inherited blood coagulation disorder caused by deficiencies of clotting factor VIII. Symptoms of hemophilia A include spontaneous internal bleeding and prolonged bleeding or oozing after injury, surgery, and tooth extraction. The severity of hemophilia A is defined by the amount of normal factor VIII present in the blood circulation. In severe hemophilia A (50% of cases), there is less than 1% normal factor VIII activity; in moderate hemophilia A (10% of cases), factor VIII levels range from 1% to 5%; in mild hemophilia A (40% of cases), factor VIII levels range from 6% up to 35%. Factor VIII is encoded by the F8 gene, and variants in F8 lead to the development of hemophilia A. Hemophilia A occurs worldwide with an incidence of approximately 1 in 5000 newborn males. Hemophilia A is inherited in an X-linked recessive manner and, consequently, hemophilia A is normally only seen in males. All males who have an F8 variant are affected, while females who have an F8 variant on one of their X chromosomes are carriers of the disorder. Approximately 10% of carriers exhibit excessive bleeding symptoms. F8 variants are numerous and consist of several different types of genetic abnormalities. The most common F8 variants are the intron 22 and intron 1 inversions. The intron 22 and intron 1 inversions together are responsible for more than half of severe hemophilia A cases, but only rarely result in a milder phenotype. Treatment of hemophilia A with factor VIII infusion has raised life expectancy for patients from 11 years to 63 years.

Details
Project Status: Completed
Year Published: 2011
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Factor VIII
Contact
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name: saleinfo@hayesinc.com
Contact Email: saleinfo@hayesinc.com
Copyright: 2011 Winifred S. Hayes, Inc
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