HUDDERSFIELD families affected by the bleeding disorder haemophilia will most likely know Dr Sam Ackroyd.
The consultant haematologist is the director of the centre with responsibility for the Huddersfield, Bradford and Airedale areas.
Today is World Haemophilia Day so he took time out to explain the work of his team, and how victims are now enjoying a vastly improved quality of life.
The congenital blood disorder most commonly manifests in the form of haemophilia A or B, it is carried by women and usually only affects boys, causing spontaneous bleeding into joints and clotting problems after accidents.
Around two thirds of cases occur when a family is aware of the genetic risk, but one third are new mutations for unsuspecting – and frightened parents.
Based at Bradford Royal Infirmary Dr Ackroyd said: “The main point of treatment is the prevention of bleeds into the joints because this creates arthritis. In the last 20-30 years the idea with the younger patients is to make their lives as normal as possible.
“The treatment is “Factor 8” and while this may prevent spontaneous bleeds it won’t prevent it in the case of an accident.
“Essentially rugby is out as are contact sports – in my experience it’s not worth a child starting junior football because when the game gets more physical aged about 11 they have to stop and this causes more disappointment.
“We do encourage swimming, tennis and cycling because if you don’t do any sports weak muscles give the joints less protection.”
In the case of a new-born baby fast diagnosis is particularly important, and the centre’s biomedical scientist Natalie Hirst is part of a team which is on call 24 hours a day.
Nurse Susan Smith is also on hand to offer assistance to families faced with the prospect of constant injections of Factor 8, which unlike the insulin used by diabetics, must go directly into a vein.
As women carry the disease, families who know they are affected face difficult decisions, not just as to the 50% chance a son will have haemophilia, but also when to tell girls that they carry a genetic flaw which could affect their children.
Dr Ackroyd said: “Families have to decide and we wouldn’t expect to see one of their daughters before 16.
“If a carrier is pregnant there are choices as to whether they want testing during pregnancy.
“A sample of the placenta can be taken at nine weeks and genetic testing can tell them whether the foetus has haemophilia.
“People usually say they wouldn’t terminate so they don’t have the test.
“If it’s a girl it’s usually not a problem, and with a boy we go to caesarian very quickly if there’s any difficulty. Also there’s no use of forceps.”
Parents can also use IVF to replant embryos once they have been screened for the disease.
Technology is advancing and as Factor 8 is drawn from blood donors, a surprising new source is taking away the risk of transferring other blood problems to sufferers.
Unlikely as it sounds, Chinese Hamster ovaries are being used, as DNA is inserted, the prolific cells reproduce and the Factor 8 is harvested. It’s the kind of development that has seen sufferers live to old age – whereas in parts of India the life expectancy is just 21.
The department is twinned with a haemophilia centre in Angamaly, India.
Dr Ackroyd said: “We exchange ideas on treatment and we have visitors so we can train them.
“It’s important to recognise other countries don’t have the finances to treat people.
“Our motivation is to give all sufferers a normal quality of life and as normal a life span as possible.”