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Helping to manage haemophilia and other rare blood disorders

Media Resources & Contact
11th September, 2023

Haemophilia is a rare, inherited bleeding disorder where the blood doesn’t clot properly due to a lack of blood-clotting proteins. Our experts help treat these disorders and help patients to live a safe and healthy life.

Kent Chap­man is NSW Health Pathology’s senior hos­pi­tal sci­en­tist in charge of haemosta­sis or coag­u­la­tion at Newcastle’s John Hunter Hospital.

“For those not famil­iar with it, that’s all the bleed­ing and clot­ting stuff,” he explains.

He says blood dis­or­ders often cap­ture people’s atten­tion, par­tic­u­lar­ly haemophil­ia, because it is so rare and can be very dangerous.

“It is par­tic­u­lar­ly rare, affect­ing about 1 in about 6 to 10,000 males and less than 1 in 300,000 females,” he says.

“New­cas­tle is the only haemophil­ia cen­tre out­side of Syd­ney, so we cov­er a large area of NSW, look­ing after patients from here to Tweed Heads and as far west as you can go.

“We help to man­age about 70 chil­dren and about 400 adults with bleed­ing disorders.

“They range in sever­i­ty from those with very mild cas­es, who we only treat on demand, to those who require prod­uct or fac­tor VIII replace­ment every day, so they don’t have cat­a­stroph­ic bleeds.”

There are two major types of haemophilia:

• Haemophil­ia A is the most com­mon form and is caused by hav­ing reduced lev­els of clot­ting fac­tor VIII (eight).

• Haemophil­ia B, also known as Christ­mas Dis­ease, is caused by hav­ing reduced lev­els of clot­ting fac­tor IX (nine). The dis­ease was named after Stephen Christ­mas, who was the first per­son diag­nosed with the con­di­tion in 1952.

A gloved hand holds a test tube with the label 'Factor VIII test'.
Reduced lev­els of clot­ting fac­tor VIII are the cause of Haemophil­ia A.

The ‘Royal Disease’

Haemophil­ia has also been called a ‘roy­al dis­ease’. This is because the haemophil­ia gene was passed from Queen Vic­to­ria (haemophil­ia B car­ri­er), who became Queen of Eng­land in 1837, to the rul­ing fam­i­lies of Rus­sia, Spain and Germany.

Mr Chap­man says the type most peo­ple have heard of is haemophil­ia A.

“The good news is the treat­ment for that is quite amaz­ing, it’s come a long way in the last few years.”

He says a new prod­uct that has only become avail­able in Aus­tralia in the last cou­ple of years means patients don’t have to inject fac­tor VIII every day, but only once every week or two.

The injec­tion is also sub­cu­ta­neous, rather than intra­venous, which has made an enor­mous dif­fer­ence to the lives of many patients.

“It means if they’re on this prod­uct, they’ll have the same sort of life expectan­cy that you or I would have.

“Obvi­ous­ly they still have to be mind­ful of play­ing con­tact sports and all those types of things, but they have a much bet­ter qual­i­ty of life, which is great.”

But Mr Chap­man admits the improve­ment in haemophil­ia A treat­ment has made things slight­ly more com­pli­cat­ed for his laboratory.

“Try­ing to mon­i­tor these dif­fer­ent prod­ucts in the lab can become more challenging.

“We’ve had to use dif­fer­ent tests to be able to mon­i­tor these new ther­a­pies, and the new ther­a­pies get in the way of the test­ing for the way we used to do it.

“It’s made our work more com­pli­cat­ed, but it’s excit­ing because it’s much bet­ter for peo­ple liv­ing with haemophilia.”

Other blood disorders

Mr Chap­man has a par­tic­u­lar inter­est in the clot­ting side of blood dis­or­ders and has spent time work­ing on a group of dis­or­ders called throm­bot­ic microangiopathies.

“We estab­lished test­ing for a par­tic­u­lar­ly rare and fatal dis­ease here over 10 years ago called throm­bot­ic throm­bo­cy­tope­nia pur­pu­ra,” he explains.

“It’s a par­tic­u­lar­ly hor­ri­ble dis­ease where you basi­cal­ly start hav­ing blood clots from head to toe, par­tic­u­lar­ly in the small blood vessels.

“If not detect­ed ear­ly, you have a very high chance of dying with­in a cou­ple of days of diagnosis.

“But with the appro­pri­ate diag­no­sis and treat­ment 95% of patients are okay.

“The treat­ment is quite inten­sive and involves plas­ma exchange, which is basi­cal­ly suck­ing all the patient’s plas­ma out and replac­ing it with more plas­ma, and that can take weeks until the patient goes into remission.”

Mr Chap­man says he has been par­tic­u­lar­ly for­tu­nate to be work­ing in the field of haemosta­sis, with tal­ent­ed col­leagues and men­tors, such as NSW Health Pathology’s Dr Emmanuel Faval­oro (West­mead) and Geof­frey Ker­shaw (Roy­al Prince Alfred Hos­pi­tal, Camperdown).

“There are not too many peo­ple who get to do this type of work, so I’m very grate­ful to have end­ed up here,” he says.

“It was a bit of a fluke that I end­ed up in pathol­o­gy to be hon­est. My moth­er knew some­one who worked in a path lab, she told me to get a hair­cut and helped get me the job.

“Twen­ty-some­thing years lat­er, here I am!”

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