“We really need to be world leaders” in diagnosing haemochromatosis

Over the past month it has been great to see the publicity that GH has been receiving in the media.

The BBC Radio 4 Inside Health piece on Tuesday 12 Feb 2019 was brilliant, and HUK thanks Dr Mark Porter for doing a great story on genetic haemochromatosis (GH).

There were some really interesting insights made by both Professor David Melzer and Dr Edward (Ted) Fitzsimons. Professor David Melzer recently led research linking GH to many other conditions, and has shown that GH is could be more serious than previously thought. HUK has a strong working relationship with Dr Ted Fitzsimons and has great respect for his understanding into haemochromatosis. HUK were also pleased to hear Mrs Jenny Lees, one of our amazing members and supporters who spoke about her family’s story with GH.

The exposure and awareness being raised of GH is much important. Understandably with the exposure, also comes questions from audiences and possible GH patients.

One of the questions HUK has received is about carriers, and whether carriers load iron.

Some carriers will load iron and exhibit symptoms. Though the inheritance pattern and the mutations involved in GH are well researched, there are evidently other factors at play which are not fully understood. (HUK FAQs)

Another question that was raised is as to whether GH is easy or difficult to diagnose.

The answer is that it can be both. Often it can be difficult for GPs because the symptoms of GH are similar to a number of other conditions, and can in fact be conditions in themselves. However, if the GP knows about GH, then the process of diagnosis in theory should be straight forward. Testing and diagnosis can include an iron panel test looking for Serrum Ferritin and Transferrin Saturation as well as a genetic test.

This is why awareness of GH among healthcare professionals is key. GH needs to move up the nations healthcare agenda.

As stated by Dr Ted Fitzsimons, “…for a country that has such a high incidence of people who are genetically predisposed to haemochromatosis, we really need to be world leaders in improving the diagnosis and improving and standardising the treatment for patients once they are diagnosed.”


Notes

Haemochromatosis/GH is a genetic disorder causing the body to absorb excessive iron from the diet. Characterised by joint pain and disease, chronic fatigue and weakness, cognitive and psychological difficulties, sexual health issues, skin problems, abnormal liver function, diabetes, and cardiomyopathy. Iron overload can be fatal. It is usually easily treated if diagnosed early.

If you believe you have haemochromatosis or any other condition, please talk to your GP.

Glossary of terms