Dr Ted Fitzsimons: Living with genetic haemochromatosis

Robin Galloway’s story: I wouldn’t say my job as a radio DJ is manual labour. Even back in the disc jockey dark ages, the only lifting I was required to do was to pop the needle on the record. Hardly a Herculean effort. So it was puzzling that in my 40s, some 20 years into my broadcasting tenure, I developed a dull aching pain in my knuckles.

Fast forward – no pun intended – and a blood test to check my iron levels led to a diagnosis of genetic haemochromatosis (GH). I was stumped as to what the condition was, but relieved to learn what was causing the pain. My father, a retired consultant paediatrician, was aware of GH and became convinced that it had contributed to my mother’s death several years before. She had passed away after suffering severe joint pain for decades. She also had very bronzed skin – another symptom of GH. Whereas my mum displayed the symptoms, my dad carried a single copy of the defective gene without any manifestations and lived to 96.

Soon, I was assigned a specialist, Dr Ted Fitzsimons – whom I would affectionately come to refer to as Doc Fitz. A self-confessed ferritin fanatic, he would soon nickname me Iron Man. The Doc’s quest was to get me ‘Back to the Ferritin’ – the serum ferritin (SF) levels I should have, that is. The way to achieve that was to remove vast quantities of blood. I had 500ml venesections every week for months. Slowly the SF levels began to return to normal and my transferrin saturation (Tsat) fell below 50%. I continue to have venesections every two to three months to maintain GH control.

I coped fairly well considering my phobia of needles! Even now, more than a decade and tens of litres of blood since diagnosis, I still wince at the thought of having a needle inserted into my veins, which I guess kind of kiboshes me donating my blood to those wonderful people at the transfusion service. Still, there are no needles in the radio studio anymore – all the songs are on hard drive. Good job, too!

Dr Ted Fitzsimons explains GH and iron toxicity

GH is the most common inherited disorder in our UK populations of north European extraction. One in eight are heterozygous carriers and one in 200 (like Robin) are homozygous for the C282Y mutation in the HFE gene. Awareness of GH remains low and for every patient diagnosed, some eight to ten homozygotes remain undiagnosed (like Robin’s mother) and at risk of iron toxicity. GH causes increased iron absorption from the diet, leading to tissue iron overload and damage. This damage affects the liver, pancreas, skin and, as in Robin’s case, the joints. At diagnosis in 2007, Robin had severe iron overload with SF >2,000µg/l and Tsat 100%. He is now on a maintenance venesection programme to keep his SF <50µg/l and Tsat <50%. Fortunately, the arthritis in his knuckles has not progressed and does not stop him cycling or getting out of bed at 4.00am

Why is GH so common in the UK?

It has been postulated that the HFE mutation conferred survival advantage from the Yersinia Pestis (plague) epidemic of the 1340s. This mutation might have spared Robin’s ancestors from the Black Death, allowing 5.5 million Scots to enjoy his breakfast show. While Robin spreads the word about GH to his listeners, an All Party Parliamentary Group has been formed to help him do this and improve awareness and treatment of GH.