We want to share some fantastic news!
On 18th January 2019, HemoGAD Technologies we were awarded a UK government research grant by Innnovate UK, part of UK Research and Innovation. The PR embargo has just been lifted by the UK government, so we can now go public.
HemoGAD Technologies Limited have been conducting research around improving the ongoing management of HH / GH. Our research project is to investigate and prove a methodology for monitoring iron levels in a home environment, with Innovate being sufficiently impressed with our concept and approach that they awarded us the maximum level of funding that is allowed under these schemes. (We still have to make a substantial financial contribution from our own resources.)
Our research is already protected under a number of (UK and International) Intellectual Property (IP) applications.
PROJECT SUMMARY – This is an extract from the project summary in our grant submission
This study will enable HemoGAD to accelerate the development of the world’s first rapid, discreet and non-invasive home-based Point Of Care Test (POCT) for ongoing monitoring / management, and to aid in diagnosis, of hemochromatosis severity. This has the potential to enable significant NHS cost savings and, crucially, improvements to the quality of life of hemochromatosis patients, together with other iron overload and iron deficiency sufferers.
This test is innovative in that it will:
1) Use a saliva sample, rather than the current approach, which requires ongoing, invasive blood testing
2) Be a non-invasive home use test device, rather than the current approach which requires clinician (GP, Nurse and lab) intervention and syringes
3) Provide rapid results; within 3 minutes, rather than the current approach which typically takes 1 to 3 weeks
4) Combine with a customised smartphone application (app), which uses the camera on the smartphone to take a photograph of the test result, the app then ‘calibrates’ the result to display the quantitative measurement
5) Be at a greatly reduced cost, per test, compared to the current invasive approach.
PUBLIC DESCRIPTION – this is the public description provided in our grant submission
Hereditary Haemochromatosis (HH) is a genetic condition that is prevalent in people of Northern European, particularly of Celtic, descent. In Eire, Northern Ireland, Scotland and Wales – population 15 million – 1 in 80 have HH; 190,000 sufferers.
The world-wide ‘average’ is 1 in 200 people have HH. Using 1 in 200 for England (artificially low, as many English nationals have some Celtic ancestry), then UK and Eire have a minimum of 465,000 HH patients.
The World Health Organisation (WHO) state 1 in 5,000 are undiagnosed, so the number of UK sufferers is likely to be in excess of 600,000.
HH is characterised by iron overload which the body stores in the major organs. Once diagnosed, treatment is simple and effective requiring the patient to have blood taken on a regular basis – the frequency being dependent upon the severity of iron overload. Untreated, HH causes irreversible organ damage and results in chronic secondary conditions including, but not limited to:
- Heart arrhythmia
- High blood pressure
HH has also been linked to Alzheimer’s (Florey Institute in Melbourne and the CSIRO), due to elevated iron levels in the brain.
Symptoms of HH include;
- Joint pain
- Skin discolouration
- Loss of sex drive
- High blood pressure
This makes diagnosis difficult, as the symptoms displayed can be similar to other conditions, including anaemia. Diagnosis often comes after a patient has developed one, or more, of the totally avoidable chronic secondary conditions. This results in a negative impact on quality of life and a lifetime taking drugs to control secondary conditions – at great annual cost, per patient, to both the NHS and the patient.
Clinical diagnosis requires a specific blood test, for Serum Ferritin (SF) – a ‘general’ blood test (Full Blood Count, FBC) will not determine a patient’s iron levels. This then needs to be confirmed by genetic screening; this is expensive and time consuming for an overstretched and under-funded NHS.
HemoGAD will carry out a feasibility study around a proof-of-concept to improve diagnosis and ongoing measurement / management of iron overload, and iron deficiency. The aim is to develop a test that is:
- Faster than current methods
- Equally accurate
- Can be carried out at home
- Has a substantially lower cost
Our research project will be starting in April 2019 and should complete within 4 months. We will be providing progress updates on our BLOG and DOWNLOADS pages, where you will find regularly updated information around this exciting project.
This report provides some advice for parents who’s children have hemochromatosis, particularly regarding diet. From the personal experience of our CEO, who’s 17 year old Son has HH, do not accept the medical professions guidelines on what is a ‘safe level’ of SF in children. George’s son was at c.200 and was experiencing lethargy, mood swings and joint discomfort. After donating blood (at the NHS blood bank) his Son’s symptoms rapidly improved !
We have seen recent questions around TIBC, TSAT, etc. so have put this ‘explainer’ together. Apologies if you have seen this before.
Hello all – we have created a new FaceBook HH group – Hemochromatosis Northamptonshire and Surrounds. The purpose of this group is to make sufferers who are within a reasonable travelling distance of Northampton aware of our new research project, which will be starting in the next month or so. We will be putting a call out at that time for volunteers to hep us with this research and, hopefully, some of you will be able to assist us. We will need you to come to Northampton, on a date yet to be set, and provide samples for us to use in our lab research. We need c. 30 HH sufferers to volunteer – led by our CEO George Donnelly – who is a 17 year HH sufferer. If you think you might be willing to assist (we will reimburse reasonable travel expenses) please join our FaceBook group and we will post more information as soon as we can. Many thanks in anticipation!
Is it possible that some people diagnosed with hemochromatosis might actually be suffering from a rarer blood disease? Hemochromatosis can look like polycythemia vera.
Robert Gadinski, Ashland, a Schuylkill County hydrogeologist and former employee of the state Department of Environmental Protection, said the issue needs to be studied, especially in looking for the prevalence of a JAK2 genetic mutation found in those with polycythemia vera. Do hemochromatosis sufferers really have polycythemia vera,” asked Gadinski. “Should the JAK2 testing be extended to people diagnosed with hemochromatosis? There are similarities in the symptoms and in the illness itself.”
We have seen regular questions (mostly from new members) asking about tips for venesections. Here is a graphic that may help. Apologies if this has been seen before. More infographics around HH at https://www.hemogad.com/hh-gallery/
This is an incredible report that bursts many myths around hemochromatosis, for example, in terms of the number of heterozygotes (aka carriers – they have one defective gene) – this report states that there are upto 100 million carriers in the US – the amount of iron that we consume per day from our diet – some ‘well-loved’ cereals contain upto 200% of the iron that manufacturers claim, and more! As the neuroscientist J.R. Connor has said, “life was designed to exist at the very interface between iron sufficiency and deficiency. Please like on our social media channels – Facebook, LinkedIn and Twitter – and share with your friends and family – let’s spread the word !
Please like on our social media channels – Facebook, LinkedIn and Twitter – and share with your friends and family – let’s spread the word !
A father who was on the verge of losing his home and contemplating suicide after doctors misdiagnosed him with ME while overlooking a treatable genetic condition for six years, says the NHS has treated him with “contempt”.
Peter King, 60, from Essex, found out in late 2018 he had hemochromatosis, often known as iron overload, a heritable disorder affecting as many as one in 200 people in the UK.
The patient survey carried out by the UK hemochromatosis society – “Living with the Impact of Iron Overload” – shows that skin discolouration is one of the most commonly occurring symptoms reported by hemochromatosis patients. In the survey, 70.4% of respondents had experienced skin problems. Within this, the most common types of issues ever experienced were “itchiness (45%), tanning or bronzing of the skin (28%) or blotchiness or rashes (24%)”.
I just wanted to share this article about Pat Flynn, who sadly died from liver cancer after being diagnosed with hemochromatosis. There is a charity golf day being held in May at Greenburn Golf Club, Fauldhouse, where Pat played from his early years. Funds will be raised for The Hemochromatosis Society – www.hemochromatosis.org.uk
Hopefully, some of you will be able to attend – you can read the full article here:
It is a myth that hemochromatosis is a rare condition!
Two recent studies – Pilling et al, 2019; Tamosauskaite et al, 2019 – have shown that GH / HH can affect unto 20 times more people that previously thought! The recent report by Professor David Melzer (who we are in contact with regarding our research project) – Exeter University (2019) – showed that having HH ‘quadruples the risk of liver disease and doubles the risk of arthritis, and frailty in older age groups.’
Genetic hemochromatosis is the most common inherited genetic disease in European populations (Powell et al, 2016). Alleles are different forms of the same gene, and if an organism has two copies of the same allele, it is homozygous. In the HFE gene, a homozygous mutation C282Y reduces concentrations of the protein hepcidin – a regulator of iron’s release into the circulation – and could cause excess iron accumulation, also known as iron loading (Pilling et al, 2019).
This mutation is reportedly present in around one in ten northern European people – so for the UK that is c. 6.7million people, that certainly isn’t rare! Conventional wisdom suggests that around one in 200 people will be homozygous, – in Ireland that number is reported to be as high as 1 in 83 people!
Let’s keep spreading the word and please keep checking our website for an exciting (soon to be released) announcement about our research project, which will be starting in March 2019.
We have seen lots of questions on the support groups around some of the technical medical terms used to describe / explain GH / HH, so have put together a glossary, which might help. The full document can be found at:
You will need to register to download the full 7-page .pdf but we promise not to fill up your inbox 😃
Hope you find this to be of some use and if you think of any additions / omissions / clarifications please do let me know.
BBC Radio 4 Inside Health discusses hemochromatosis in this Podcast – at around 8minutes 45 seconds into the item – or listen to the clipped Podcast here:
Please take a look at our downloads page, we have created a glossary of terms that are often used around hemochromatosis, covering the various types, the genetic, etc. Hopefully this will provide some insights into the ‘jargon’. Please feel free to suggest any additions and we will update and re-post, as appropriate.
TIBC, UIBC, TSAT%, SF – what does this all mean when I get my iron panel results? These terms can be confusing so we have tried to compile an ‘explainer’ that will, hopefully, make sense and get the message across. Feedback always welcome. Get the .pdf here
Common gene disorder causes serious ‘stealth’ disease, but could be easily treated – a study led by Exeter University and substantially raising awareness of GH / HH
What a busy day today has been, the BMJ study (available in full on our downloads page shortly) highlights what a lot of you already know about HH – fantastic to see more mainstream media coverage, spread the word people !
We have put together a gallery of infographics around HH, hopefully these will help to explain some of the ‘mysteries’, or answer some of the frequent questions that we see. We will be adding to this as we put together / collate more information.
We have seen lots of questions raised around diet, what to eat, what not to eat, etc. This infographic is a useful ‘at-a-glance’ reference about foods that can help the health of your liver, something of interest to many HH sufferers.
Hemochromatosis is the most common genetic disease so far identified, with around 1 in 200 people severely affected. Most people with Hemochromatosis have mutations in the HFE gene, discovered in 1996. Hereditary Hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance.
Ferritin levels are indicated on a laboratory test that indirectly measures the amount of iron in a patient’s body. Normal ferritin levels change as children age, but they typically fall between 6 and 55 ng/mL. Abnormal ferritin levels can indicate imbalances in iron metabolism that happen with problems like Anaemia and Hemochromatosis.
Ferritin levels are one of many things a physician can test to assess iron metabolism in a patient. Ferritin is a protein that binds iron, and therefore this test, much like many iron tests, is an indirect measurement of iron in the body. Other iron tests that are typically ordered with ferritin to give an overview of iron metabolism include hemoglobin, serum iron and total iron binding capacity.
The normal range of ferritin in children increases as they age. In children between the ages of 1 and 5 years, the normal range is 6 to 24 ng/mL. In children between 5 and 9 years of age, the normal range increases to 10 to 55 ng/mL. These levels continue to increase into adulthood, at which point they can be up to 200 ng/mL.
Despite the normal range of ferritin levels, the absolute ferritin measurement still indicates how much iron is in the child’s body. A child with a ferritin measurement in the lower end of the normal range has less iron than a child in the upper end of the normal range. A child who’s levels fall anywhere within the normal range has enough iron to be healthy. However, it is important to track ferritin levels over time for a child who has known iron metabolism problems so that an individual normal level can be established.
The ferritin test requires blood to be drawn the from the child and sent for testing. In adults and older children, blood will typically be drawn from a vein with a needle. In younger children, a lancet may be used to quickly puncture the skin and collect enough blood for the test. While abnormal ferritin levels can be associated with iron metabolism problems, they can also be cause by non-associated reasons, such as use of certain medications. For this reason, a child who is on other medication may be directed by a physician to stop taking it before the test.
The benefits to a ferritin level test in children is to help identify iron metabolism disorders. For example, a low ferritin level could help diagnose iron-deficiency Anemia, whereas a high ferritin level is essential to a diagnosis of Hemochromatosis, which is an increase in total body iron. Using this test along with other iron metabolism tests, a physician can pinpoint the problem with iron metabolism and start the appropriate therapy.
Testing and Diagnosis
Have seen a lot of questions around testing for Hemochromatosis, here is some guidance – thanks to The Hemochromatosis Society: http://hemochromatosis.org.uk If you think you might have Hemochromatosis make an appointment with your Doctor.
Diagnosis of Genetic Hemochromatosis (GH) is often made late. This is dangerous because untreated iron overload leads to organ damage and other problems, much of which is irreversible. Any of the common symptoms – especially in combination – should lead your doctor to arrange tests that may confirm GH at the earliest opportunity.
Diagnosis is made through any or a combination of the following tests. You may hear references to genotyping, or molecular diagnosis, which are terms referring to definitive genetic testing results, or phenotyping, which is a term used when referring to analysis of the physical symptoms or traits of a genetic condition.
Transferrin saturation (TS)
TS is the ratio of two simple blood tests, which indicates how full (saturated) the body’s system for transporting iron is. Serum iron is divided by total iron binding capacity (TIBC) to give TS as a percentage. Normal average is 30% (slightly higher in men than women) and if on two occasions TS is over 50% in men or 45% in women, iron overload is very likely and your doctor should then measure serum ferritin.
Serum ferritin (SF)
This is an indicator of the amount of iron stored in the body. Levels significantly over 300µg/l (micrograms per litre) in men and post menopausal women, and 200µg/l in women are further evidence of GH. It should be realised that in the early stages of iron accumulation, serum ferritin may be within the normal range and thus raised TS with a normal serum ferritin level does not rule out a diagnosis of GH.
A serum ferritin result on its own cannot be used to diagnose GH because other factors can influence SF levels, for example medication, inflammation, alcohol and other medical conditions.
A simple genetic test for the HFE gene mutation is positive in over 95% of those affected. It will also identify family members at risk of loading iron.
Testing is using a blood sample from which DNA is extracted and analysed.
Prior to genetic testing and on the delivery of results you may also be referred to a geneticist or genetic counsellor to discuss the implications for your family and the interpretation of results.
Liver function and liver iron tests
Your doctor will request a number of blood tests to check your liver, known as liver function tests. Liver problems can be an indicator of iron deposits building up.
A form of magnetic resonance imaging (MRI) scan called FerriScan or LiverMultiScan (these are brand names) is now increasingly in use as a way of directly measuring liver iron concentration.
MRI is usually preferred to biopsy as it is cheaper, non-invasive, quicker and more accurate. However in some cases a biopsy might still be necessary; a small sample of the liver is removed using a biopsy needle, which is checked to see whether tissue damage such as cirrhosis is present.
Liver tests are generally recommended if serum ferritin has been recorded above 1000µg/l, or if there is other evidence of abnormal liver function.
Liver transient elastography or Fibroscan (a brand name) is similar to an ultrasound scan and is widely used as a way of checking for fibrosis and more severe forms of liver damage such as cirrhosis.
An interesting read! The Lancet raising, much needed, awareness about HH in the GP / medical community. Some shocking statistics around sufferers having to demand basic tests (such as TSAT), with some even being refused this fundamental test.
This article draws from the recent Hemochromatosis Society patient survey report – go to our downloads page for the full article:
For anyone looking to increase their knowledge about Hemochromatosis, this is a useful starting point, thanks to the Thyroid Patient Advocacy for these insights. This information has been compiled with the advice of leading doctors and researchers as well as HH patients themselves.
Haemochromatosis might not be something you’ve heard of—even though a lot of people have this health condition— but it’s a widespread type of iron storage disease that causes your body to store excess iron at dangerously high levels. Over time and if left untreated or undiagnosed, the extra iron in your body can cause damage to several vital organs. Since many of the symptoms of Haemochromatosis aren’t unique to the disease (there are several other diseases that can cause the same symptoms) it can be difficult for a doctor to recognise the cause. Although it can be difficult to diagnose, Haemochromatosis is one of the most common genetic diseases ………
A very useful and exhaustive list, from the USDA, of the Iron content of many foods, what to eat, what not to eat.
David was interviewed on the radio at the start of world Haemochromatosis week:
A great and simple infographic that shows ow the genetics work, thanks to the Irish Haemochromatosis Association for this.