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The challenges for men living with haemophilia

Men with haemophilia are living much longer than they used to, but that brings new difficulties.

If Deon York, who has severe haemophilia, had been born several decades earlier, he probably wouldn’t have survived to his late thirties – let alone be working full-time and travelling regularly overseas to do volunteer work for the World Federation of Hemophilia.

In 1960, life expectancy for a person with severe haemophilia – a genetic bleeding disorder that affects mostly males – was about 20 years. They died from either external or internal bleeding.

And as York knows from his work overseas, that is still the case in developing countries where haemophilia often goes undiagnosed and untreated. When he went to Laos last year, he met the country’s entire identified patient group – just 17 of them in a population of almost seven million people. That compares with a New Zealand patient group of about 430.

“They were mostly kids,” he says. “Everyone else had moved away or, very likely, died – or they’d never been diagnosed in the first place.”

Haemophilia, which affects about one in 5000 males, is caused by low levels of one of two blood-clotting factors – either factor VIII or factor IX. More than half of those affected have severe haemophilia, which means their factor levels are less than 1%. People with haemophilia don’t bleed faster than other people, but they do bleed for longer – with potentially fatal consequences. Haemophilia can’t be cured, but even severe haemophilia can be treated with regular intravenous injections of the missing clotting factor.

Haemophilia is known as a sex-linked disorder because the genes that govern factors VIII and IX are situated on the female (X) chromosome. A boy whose mother carries the gene has a 50% chance of having haemophilia. Her daughters have a 50% chance of carrying the gene, which may in turn affect their sons.

However, in about 30% of cases there is no family history of the disorder. Instead, it develops from a spontaneous genetic mutation. It’s now known that some women carriers also have lower-than-normal levels of blood-clotting factors. This can cause problems such as heavy periods or excessive bleeding during pregnancy and labour.

Deon York. Photo/Supplied
York, who is president of the Haemophilia Foundation of New Zealand, is one of a growing number of men who are living with – rather than dying from – haemophilia. Advances in treatment since the 1960s mean that men with haemophilia are now surviving into old age, creating a new set of challenges.

“We have more over-65 people living with haemophilia than ever before, and they are the first group who are living with haemophilia as well as the regular changes of ageing,” says York.

These changes include things such as loss of balance that can lead to falls, which can have serious consequences for someone with haemophilia, and cognitive decline that may mean they forget to take their medication. Some of these older men are also part of the group whose health was compromised after they contracted hepatitis C – and in some cases HIV – from contaminated blood products before routine testing of donated blood began in 1992.

But the biggest health challenge facing older men with haemophilia is the severe joint pain and limited mobility caused by what’s known as haemophilic arthropathy – damage, similar to arthritis, caused by bleeding into the joints, particularly the ankle joints.

“The blood breaks down the cartilage around the joints, so it ends up being bone on bone,” says York. “It can affect any joint, but the ankles bear so much weight it’s hard to escape damage to the ankle joints.”

The foundation is now developing ways of supporting these men. In the Wellington region, for example, a “masters” group gets together regularly to do physiotherapy exercises.

York has some damage to his ankle joints, which means he sometimes walks with a limp. However, better treatment means the generation behind him is less likely to experience joint damage. As welcome as this change is, York says, it’s something of a double-edged sword, because younger people with haemophilia don’t always appreciate how serious it is.

“They can forget that they’re living with a chronic disease that has the potential to be fatal. A kid today can feel quite invincible and ready to take on anything, but they can still have brain bleeds that can lead to early death.”

This article was first published in the September 7, 2019 issue of the New Zealand Listener.