Outlook | Published:

Born in the blood

Nature volume 515, pages S158S159 (27 November 2014) | Download Citation

People with the inherited bleeding disorder haemophilia lack factors that cause the blood to clot. The disease affects thousands of people around the world and has even played a part in historic events. By Neil Savage.

COAGULATION CASCADE

When damage occurs to blood vessels, exposure of the blood to collagen in the cell walls and material released by the cells triggers the activation of clotting factors. One factor activates the next factor in a series of events (some not depicted here) that eventually produces fibrin. Fibrin forms a mesh to hold together a plug of platelets to form a clot (platelets are a type of cell that circulates in the blood to help coagulation)1,2.

OF ALL THE PEOPLE WITH HAEMOPHILIA...

THE ROYAL DISEASE

Image: Hulton/Getty; The Print Collector/Getty; Imagepast/Alamy; Fine Art Images /Heritage Images /Getty; Heritage Image Partnership Ltd/Alamy

INHERITANCE PATTERN

The mutations causing haemophilia are carried on the X chromosome. Woman are usually carriers, with a 50% chance of having sons with haemophilia or daughters who are carriers. Men with haemophilia will have no sons who are haemophiliacs, but all their daughters will carry the gene. In rare cases, female carriers or girls with both X chromosomes affected will have haemophilia; fewer than 10% of cases occur in females. Approximately one-third of cases arise from spontaneous mutation5.

TREATMENT TIMELINE

References

  1. 1.

    Pipe, S. W. (Ed.) The Hemophilia Report (2014) available at:

  2. 2.

    2012 World Hemophilia Foundation Survey, covering 91% of the world's population

  3. 3.

    US National Hemophilia Foundation

  4. 4.

    Rogaev, E. I. et al. Science 326, 817 (2009).

  5. 5.

    US Centers for Disease Control and Prevention

  6. 6.

    Starr, D. Blood: An Epic History of Medicine and Commerce, p346, Harper Perennial (2000).

  7. 7.

    Manco-Johnson, M. A. et al. N. Engl J. Med. 357, 535–544 (2007).

Download references

About this article

Publication history

Published

DOI

https://doi.org/10.1038/515S158a

Authors

  1. Search for Neil Savage in:

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Newsletter Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing