World Haemophilia Day 2024

World Haemophilia Day began in 1989 and April 17 was chosen to remember The World Federation of Haemophilia’s founder, Frank Schnabel’s birthday. This year the theme is:

“Equitable access for all: recognising all bleeding disorders.”

World Haemophilia Day brings an opportunity to raise awareness about haemophilia and to provide a platform to increase knowledge and information regarding this major health condition. The day also shares the importance of funding research and clinical trials which helps us learn about and develop life altering treatments.

General information about haemophilia A & B

Haemophilia is inherited as an X-linked disorder – the son of a female carrier has a 50% chance of having the disorder: with the daughter having a 50% chance of being a carrier. Therefore, the daughters of men with haemophilia are carriers, however their sons are normal.

The prevalence of haemophilia is 1 in 6000-10,000 of the male population worldwide.

  • Haemophilia A – approximately 1 in 5000 males
  • Haemophilia B – approximately 1 in 30,000 males

Haemophilia A is caused by a reduction in factor VIII, which is a protein involved in blood clotting.

  • Symptoms vary depending on level of factor VIII:
  • Less than 1% - frequent spontaneous bleeding from early life
  • 1-5% - severe bleeding following injury and occasional spontaneous episodes
  • Above 5% - mild disease associated with bleeding only after injury or surgery.
  • Mortality associated with haemophilia A is common among individuals with cancer and heart disease.

Haemophilia B is caused by a deficiency in factor IX (also involved in the blood clotting process). Clinical features are similar to haemophilia A.

Please visit our website for additional information about Haemophilia.

2011-2012 Australian Bleeding Disorders Registry (ABDR)

  • 2,316 patients with haemophilia A; 724 patients with severe haemophilia A.
  • 544 patients with haemophilia B; 102 patients with severe haemophilia B.

2019-2020 ABDR

  • 2,449 patients with haemophilia A; 706 patients with severe haemophilia A.
  • 585 patients with haemophilia B; 112 patients with severe haemophilia B.

2020-2021 ABDR

  • 7,040 patients active in the registry as at 30th June 2021.
  • Almost 36% of patients have hereditary haemophilia A.
  • 2529 patients with haemophilia A; 725 patients with severe haemophilia A.
  • 601 patients with haemophilia B; 111 patients with severe haemophilia B.

2021-2022 ABDR

  • 7,402 patients active in the registry as of 30th June 2022.
  • Just over 35% of patients have hereditary haemophilia A.
  • 2621 patients with haemophilia A; 742 patients with severe haemophilia A.
  • 622 patients with haemophilia B; 113 patients with severe haemophilia B.

Perth Blood Institute (PBI) – research and clinical trials

Clinical trials are a crucial component in developing new therapies and treatments for bleeding disorders. In 2017, PBI participated in a clinical trial to test a new novel investigational agent designed to mimic (instead of replace) the missing function of Factor VIII in patients with haemophilia A. This agent (Hemlibra) has gone on to be approved by the Therapeutic Goods Administration of Australia.

Consultant Haematologist, Professor Ross Baker, says this innovative treatment is a huge success story for science, the brave people who participate in clinical trials, and for the continuation of best-practice treatment for future generations, especially for children with haemophilia. “Hemlibra is a total game changer for patients with haemophilia A who can go on to live more normal lifestyles, including being able to take part in activities they may never have had the confidence to pursue because of living with their condition,” Professor Baker comments.

In 2020 the PBI and Murdoch University team investigated the potential for a less burdensome treatment for haemophilia A. Haemophilia A is a complex bleeding disorder and as mentioned above involves genetic deficiencies in the Factor VIII protein. The research looked at different Factor VIII mutations in a specific subset of patients and the test of the principal project looked at a mutation hotspot, B-domain. Factor VIII is encoded by a special gene (F8) and the results of the study found that DNA skipping of mutated regions of Factor VIII can be a potential novel treatment strategy for haemophilia A. Once proven feasible, a patient's own cells could potentially make a working Factor VIII copy without needing regular factor infusions.

Life with a bleeding disorder may bring challenges but as we continue to receive generous donations from our loyal community, PBI is able to fund research to advance new treatments and help facilitate clinical trials of new drugs, helping to improve lives around the world. Please visit our website if you would like to donate.

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Author: Gina Rodgers

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