World Haemophlia Day 2023

April 17th is World Haemophilia Day, and this year the theme is “Access for All: Prevention of bleeds as the global standard of care”. Every year this day is recognised worldwide to increase awareness and advocate for improved access to treatments for all people with bleeding disorders like haemophilia. Please visit the World Hemophilia Day website for further information.

General information about haemophilia A & B

Haemophilia is inherited as an X-linked disorder – the son of a female carrier has a 50% changed 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.

Global prevalence of Haemophilia

(World Federation of Hemophilia Annual Global Survey 1999-2018)

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.

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.

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.

For additional information please visit our website, Haemophilia.

Perth Blood Institute (PBI) clinical trial

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 (Hemilbra) 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.

John has haemophilia A and participated in the PBI clinical trial for Hemilbra.

“With three grandchildren who also have haemophilia A, I was committed to participating in any trial that could potentially lead to life-changing treatments.” “I have taken part in several trials, but the last one, in 2017, for Hemlibra was the game changer, and for the first time in over 50 years I have had no bleeding issues, in fact not even a bruise.” “Being able to participate in PBI’s clinical trial program has literally changed my life. It’s been wonderful.” John. Visit our website to read more about John's story.

PBI research

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.

In 2021/2022, PBI initiated a study into ‘bleeding disorders of unknown cause (BDUC)’ with Professor James O’Donnell from the Royal College of Surgeons, Dublin Ireland – the Irish-Australian Blood Collaborative. This study aims to address the current unmet clinical need of a definition of BDUC. A consensus on a clinical and laboratory definition of BDUC represents a fundamental step in diagnosis; currently estimated to affect 30% of patients referred for assessment of a possible bleeding tendency. The study will clarify cases currently assessed using the established Bleeding Assessment Tool (BAT) score and will involve key haematology centres in Australia and Ireland, with the aim of implementing additional criteria for sub-categorisation of BDUC.

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. If you would like to donate to improve our haemophilia research, please visit https://www.pbi.org.au.

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Author: Gina Rodgers

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