Woman who survived coronavirus shares her early symptoms

Haemochromatosis: 'Celtic Curse' Gene Can Cause Major Organ Damage

Sheenagh Lundy suffers from haemochromatosis or what is sometimes called the "Celtic Curse".

The disorder sometimes known as 'the Celtic curse' causes the body to absorb excessive amounts of iron.

The iron is deposited in various organs including the liver, heart, pancreas and the joints causing an iron overload.

Once regarded as rare, as many as one in eight people in Ireland are now found to be carrying the gene.

BBC News NI Health Correspondent Marie-Louise Connolly explains Haemochromatosis.

The symptoms can include extreme tiredness, joint pain and in extreme cases it can cause damage to vital organs.

Shenagh is now 25 and working as a nurse in Newry, but the condition can still leave her feeling exhausted.

"I knew there was something not quite right when at 18. I was always feeling tired and lethargic. Up to then I had been active going to the gym. I had pains in my joints especially in my knuckles which were very painful. "

Exhausted and lethargic

The underlying cause is the inheritance of a mutated gene which stops the body's control of iron from working properly. It can only be inherited and can't be caught from anybody else. It can however be passed on by having a child.

While a person can carry the gene that doesn't necessarily mean they will present with symptoms.

Sheenagh Lunday was diagnosed with haemochromatosis at the age of 18

Shenagh told the BBC that her blood was tested and found to be carrying the haemochromatosis gene.

"I had never heard of it then and I had to start doing a lot of research. I was amazed to find out that it is a celtic disease but no one in my family had ever heard of it either.

Now we've all been tested and my parents are both carriers but my brother doesn't have it. "

Consultant Hepatolgist Dr Johnny Cash

Dr Johnny Cash is a consultant hepatologist at the regional liver unit at Belfast's Royal Victoria Hospital.

"The Celtic curse refers to both the prevalence and incidence of the disease in the Irish population but also because the genes have been detected as far back as the Neolithic era in a woman who lived back then just south of Omagh. Her body was exhumed over 5 years ago as were two men who lived on Rathlin Island in the Bronze age. All were found to have the Celtic gene."

To detect whether a person has too much iron in the blood a ferritin or blood test can be carried out. High levels of ferritin can indicate an iron storage disorder. The typical ranges are 20 to 500 nanograms per millilitre in men; while 20 to 200 in women. Shenagh's first reading was 316.

That's considered high. In order to release the iron around a pint of blood is withdrawn. For some people this can mean attending hospital several times a year until the iron levels are reduced.

Around a pint of blood is withdrawn to release the iron content

Shenagh said after giving blood she normally feels much better and energy levels are restored.

"Beforehand I'm usually very tired. My joints are sore especially my knuckles.

Then I get the procedure done and within a day I am back feeling a lot better. "

The blood that is taken is considered 'good blood' and once treated can be used by the transfusion service.

Dr Johnny Cash says more people are now aware of the condition.

"Haemochromatosis is no more prevalent now than it would have been in the past however we are getting better at public awareness of the condition and word of mouth is certainly playing a part.

Around 20,000 people in Northern Ireland have it but there could be more who aren't aware. "

Early detection of this condition is possible and recommended so that it can be treated early.

Iron absorption mystery 'solved'

Haemochromatosis: Calls For More Testing For 'Celtic Curse' In NI

It is thought that one in 10 people have the condition in Northern Ireland

People whose relatives have a blood condition are often not being screened in Northern Ireland for reasons of cost, a charity has said.

Haemochromatosis - also known as the Celtic Curse - is the most common genetic disorder in Northern Ireland.

Guidance states all close relatives - siblings, parents and children - should be screened if a person is diagnosed.

The Department of Health said screening of people for haemochromatosis would be done if it was required.

The disorder means a person absorbs too much iron and it can start to damage other parts of their body.

Catherine McComb has been waiting for three years to see a consultant

Haemochromatosis would usually be determined by a series of blood tests to detect high iron levels.

But Haemochromatosis UK says people are struggling to have the genetic blood test carried out.

It typically costs about £200 but the charity has funded 30,000 self-test kits for use by people in Belfast.

'I had to push for it'

Catherine McComb still considers herself one of the lucky ones because she was diagnosed with haemochromatosis before any damage was caused.

She gained her "hard-fought diagnosis" over three years ago.

Since then the 40-year-old has been "in limbo" waiting for an initial consultation to discuss her treatment plan.

Treatment includes regularly giving blood to lower the level of iron in the body.

Catherine says it's a "wonderful relief" to finally understand her condition

Catherine described her initial symptoms as feeling "generally under the weather".

She repeatedly contacted her GP before a locum doctor flagged abnormal blood iron levels.

"It was like day and night how much I had changed and I knew it wasn't just that I was getting older," she said.

"I had the self-awareness to push for an understanding."

What is the Celtic Curse?

Excavated near Belfast in 1855, the Ballynahatty woman lay in a Neolithic tomb chamber for 5,000 years

The gene mutation that causes most cases of hereditary haemochromatosis is believed to have originated in the Celtic population of Europe.

It is most commonly found in people of Irish, Scottish, Welsh or Cornish ancestry.

DNA analysis of the genomes of a Bronze Age farmer on Rathlin Island in County Antrim showed that it was already established by that period.

Earlier still, the remains of a Neolithic woman found at Ballynahatty near Belfast show that she carried a different variant also associated with an increased risk of the disorder.

Three of the Sheridan siblings from Belfast have the condition, with 66-year-old Bill having recently been diagnosed.

"It's interesting because we're all at different stages," he said.

One of his sisters, aged 69, believed she had arthritis and fibromyalgia for 15 years before finally understanding the condition.

"Her doctor told her she quite possibly could have been misdiagnosed," said Bill.

Bill Sheridan and his two sisters have been diagnosed with the blood condition

"If people get tested early they could give blood and benefit the rest of society and not be a burden on the health service like my sister has been."

Bill and his siblings were all told they were "red-flag referrals" to see a specialist, later learning that could take two to three years, so they chose to pay for a private consultant.

"I don't know how many people are sitting waiting… when it's easily treatable with no cost to society," he said.

'Dad insisted we get tested'

Sean O'Hare, 52 from Forkhill in County Armagh, lost his father Tony to haemochromatosis-induced heart failure in 2018, having been diagnosed two years previously.

"He had signs of fatigue and joint pain but we'd have seen him as being really healthy for his age, active all his life," said Sean.

"He was a keen gardener and golfer who wouldn't have been a person for sitting around.

BBC News NI health correspondent Marie-Louise Connolly explains haemochromatosis

"My father insisted we get tested - he was a pharmacist himself."

Sean said they now knew of two carriers in the family.

"They don't actually test for haemochromatosis, you have to ask - that has to change," he said.

Since the passing of Sean's father, the family have been raising money to fund genetic testing in Newry this month.

"The big thing is about creating awareness - if it saves somebody's life it'll all be worthwhile."

How can I get tested?

First-degree testing - siblings, parents and children - was recommended by the British Society of Haematology in 2018.

A recent campaign, funded by Haemochromatosis UK, has meant thousands of households in Belfast have been offered free self-test kits.

The resulting samples are posted to an NHS-accredited laboratory, which provides results within a fortnight.

Thousands of genetic self-test kits are being distributed across Northern Ireland

Similar schemes were piloted in Carrickfergus and Londonderry over the past two years.

Neil McClements from the charity said it has established that one in 10 people have the condition.

"They are all now receiving care, having previously been either unaware of their status or having been turned down for a test by their GP when a close relative was diagnosed," he said.

"UK guidance says first-degree relatives should all be screened if someone is diagnosed - this mostly doesn't happen in Northern Ireland for cost reasons."

"I understand we got it from the Vikings," said my nurse said as she extracted blood from me last week.

I am being tested for haemochromatosis after several family members were diagnosed.

We discovered it was in our family in 2017 - back then I had never heard of the disorder referred to as the "Celtic curse".

For centuries people in Ireland lived with it, unaware they had it - did that do them any harm?

My feeling is that it's better to know because then you can do something about it.

There are now more cases being diagnosed as people like me are asking to be tested.

Those affected in my family have changed their diet.

Some breakfast cereals are avoided, as are other iron-loaded foods and certain alcoholic drinks.

Regular venesections - collecting blood for diagnosis - mean their iron counts are going down.

During family get-togethers discussion often turns to "haemo" and comparing iron counts. I await my result.

Iron disease 'bigger threat than we knew'

Haemochromatosis - 'the Celtic curse'

CPD: An Introduction To Genetic Haemochromatosis

GPs Dr Susan Hancock and Dr Doug Jenkinson and ANP Diogo Gomes provide an overview of genetic haemochromatosis, including how timely diagnosis can support early intervention and optimal management

Module summary

Genetic haemochromatosis (GH) is a relatively common but under-diagnosed condition. Due to the generic nature of early symptoms, the condition can be missed, misdiagnosed or diagnosed late.

Late diagnosis increases the risk of the development of serious complications. Increasing primary care healthcare practitioners' knowledge of this condition can lead to earlier diagnosis, allowing for timely treatment and possible reduction in GH related complications. This module also gives an overview regarding the genetic/psychological aspects of being diagnosed with a hereditary condition, which can require lifelong treatment.

Learning objectives

The aim of this video module is to provide an overview of GH, exploring the signs, symptoms, diagnosis, treatment, and management of this condition. The possible complications of treatment will be examined to allow healthcare practitioners to consider the physical and psychological aspects that should be addressed when managing those diagnosed with this condition. After completing the module and reflection activities you should be able to:

• Describe the signs and symptoms that might indicate GH

• Identify the blood tests required to diagnose GH and be able to interpret the results

• Discuss the implications of GH on those diagnosed with the condition and their family and/or carers

Module lesson

The first step of the module is to undertake a short assessment to test your current understanding of genetic haemochromatosis.

Following the video seminar, you'll be asked to complete another brief assessment. Completion of both tests is an important aspect of the module and CPD points are only awarded after both elements are successfully completed.

Click here to view and complete the full CPD module and download your certificate logging 2 CPD hours towards revalidation

Authors: Dr Susan Hancock FRCGP and Dr Doug Jenkinson FRCGP, in collaboration with Haemochromatosis UK

Presenter: Diogo Gomes PGCert (ANP), NMP, RGN Advanced Nurse Practitioner – Information & Advisory

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