Diagnosing and treating Haemophilia
This year, World Haemophilia Day took place on 17 April, a worldwide initiative to increase awareness of haemophilia and other inherited bleeding disorders. We took the opportunity to speak with Associate Professor Chris Barnes, consultant haematologist at the Royal Children’s Hospital Precinct in Melbourne, to discuss how haemophilia is diagnosed and treated.
“Haemophilia is a potentially life-threatening, genetic bleeding disorder where the blood does not clot properly due to a lack of clotting factor (protein). It is caused by a mutation or change in one of the genes located on the X chromosome, meaning that the vast majority of those affected are males. Females can be a “carrier” of haemophilia if they have one affected X chromosome.
“Haemophilia occurs in 1 in 10,000 males. In Australia, there are currently more than 2,800 people diagnosed with varied degrees of severity. Recent studies suggest that over 430 New Zealand residents have haemophilia” said A/Prof Chris Barnes.
Symptoms of haemophilia vary depending on the severity of the deficiency of the protein; if the clotting-factor level is only mildly reduced, then bleeding may only occur after surgery or trauma. However, if the deficiency is severe then spontaneous bleeding may occur, including unexplained or excessive bleeding from cuts, pain and swelling in the joints, large or deep bruises, or blood in urine or in stools.
“In most cases, bleeding starts when young boys are moving around as infants and they develop significant bruising or painful joints from bleeding. When left untreated, this internal bleeding can result in early onset arthritis. Bleeding in the brain is uncommon but might occur in young patients. Once diagnosed, bleeding can be effectively treated with the administration of clotting factor concentrate.”
“Managing the condition may need intravenous injections up to three times a week for some patients. The clotting factor treatment needs to go into the vein, directly into the circulation. We spend the majority of our time in the clinical space, assisting parents and the older boys in the infusion of the clotting factor” said A/Prof Barnes.
Until now, replacement therapy, which provides patients with the missing clotting-factor, has been the mainstay of treatment and is very effective in managing and preventing bleeding events. However, challenges still remain, including breakthrough bleeding, progressive joint disease, the development of inhibitors to the clotting factor. These challenges are being addressed through a number of new treatments.
“New treatments for haemophilia fall into three categories. Firstly, improvements to current clotting factors treatments mean patients do not have to infuse as frequently. Secondly, non-clotting factor treatments which are injected under the skin rather than infused - some of these medications have been trialled and are approved for funding. Thirdly, gene therapy.
“In broad terms, gene therapy uses viruses to provide a genetic treatment which allows patients to produce small amounts of the required clotting protein in the liver. This gene therapy is currently in late trial phase and we’re hopeful that this will ultimately result in a cure.
“Realistically, I’d say in the next three to five years gene therapy is likely to be a reality, but may not be available for all patients. We have to be careful that patients don’t think that one simple injection will cure the condition, it’s a bit more complicated than that. However we would be hopeful that gene therapy in some form, for a significant number of patients, will be available within a small number of years,” said A/Prof Barnes.
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This article appeared in the April 2019 Edition of ePathWay which is an online magazine produced by the Royal College of Pathologists of Australasia (http://www.rcpa.edu.au/Library/Publications/ePathway).
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