Have you or a loved one been diagnosed with haemophilia?

Haemophilia is a relatively rare bleeding disorder. You may get as far as adulthood before mild (or very rarely, moderate) haemophilia is diagnosed. The discovery may have been through unrelated events such as a complication of surgery.¹ Alternatively, the diagnosis may have come very early on in life. Having your child diagnosed with haemophilia can be a traumatic and lonely time. In particular, for the 1 in 3 families who have no history of bleeding disorders,² ³ the diagnosis can be completely unexpected, leaving them with lots of questions and need for reassurance.

 


Published 15 February 2019 | 2 min read
 


If you have a relative who has haemophilia, genetic testing (usually a blood test) can show whether you’re a haemophilia carrier.⁴ ⁵ Another blood test measuring your blood’s ability to clot can help diagnose haemophilia and/or how severe it is ⁴ ⁵

Haemophilia requires accurate diagnosis and effective management

Managing haemophilia effectively requires accurate laboratory diagnosis, medical expertise, access to treatment, and support and education for the 400,000+ people worldwide believed to be living with this condition.⁶ ⁷

If severe haemophilia is left untreated, spontaneous bleeding can become very serious and potentially cause permanent damage to the body. Severe or life-threatening bleeding can be prevented if haemophilia is adequately diagnosed through your doctor and promptly treated.8 However, around 75% of people with haemophilia worldwide remain inadequately treated or cannot get access to treatment they need.⁷

A main sign of haemophilia is spontaneous and/or prolonged bleeding. This could include sudden nosebleeds and bleeding gums.⁹ Speak to your doctor if you’ve any concerns raised by this post or want to discuss more. The first steps in making sure that haemophilia is managed effectively for you or a loved one, is obtaining an accurate diagnosis and establishing access to care and treatment.


References

  1. The Haemophilia Society. How is haemophilia diagnosed? https://haemophilia.org.uk/how-is-haemophilia-diagnosed/ [Accessed January 2019].
  2. The Haemophilia Society. Newly diagnosed children and their families https://haemophilia.org.uk/support/newly-diagnosed/ [Accessed January 2019].
  3. The Haemophilia Society. Understanding haemophilia 2017 https://haemophilia.org.uk/wp-content/uploads/2017/04/Understanding_haemophilia_WEB.pdf [Accessed January 2019].
  4. World Federation of Hemophilia. Carrier diagnosis https://www.wfh.org/en/abd/carriers/carrier-diagnosis-en [Accessed January 2019].
  5. NHS. Haemophilia https://www.nhs.uk/conditions/haemophilia/ [Accessed January 2019].
  6. World Federation of Hemophilia. Our work https://www.wfh.org/en/page.aspx?pid=1289 [Accessed January 2019].
  7. National Hemophilia Foundation. Fast Facts https://www.hemophilia.org/About-Us/Fast-Facts [Accessed January 2019].
  8. Fijnvandraat K et al. Diagnosis and management of haemophilia. BMJ 2012;344:e2707.
  9. NHS. Haemophilia symptoms https://www.nhs.uk/conditions/haemophilia/symptoms/ [Accessed February 2019]