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Probably the most common genetic disease you've never heard of.

Discussion in 'General Chat' started by JenniferM55, Jul 19, 2020.

  1. JenniferM55

    JenniferM55 Type 2 · Well-Known Member

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    This is my present hobby horse! I'm on a quest to tell the world about it! :)

    The disease is called Haemochromatosis, or the Celtic Curse, estimated to be one person in 83 in Ireland suffering from this disease, and around one in 100 suffering in America (spelt Hemochromatosis in the US).

    Short story short, a couple of years ago my sister in law developed arrhythmia where she needed a procedure to stop and start her heart, resetting it into a correct rhythm. Last October my normally fit 76 year old husband developed angina (his treatment is still in process).

    Meanwhile my sister in law has been doing some 'digging around' and we've now discovered that both she and my husband have inherited 'the Celtic Curse' (genes from both parents) medically known as Haemochromatosis.

    Basically, it's a build up of iron in the blood, and its not usually until later in life the level of iron/ferritin becomes dangerous, it comes toxic (rusty) and causes damage to many internal organs. (Iron is normally given as a pick-me-up, it's added to many vitamin supplements, and it's also by law added to white flour).

    Doctors don't normally know about this disease, and the ones we've met, even in the cardiology department when they hear about it usually say “Oh how interesting”.... they obviously don't know. There is, or has been, a campaign from Haemochromatosis scientists to have iron level tests common practice.

    IMO the reason why doctors aren't aware is because there's simply no money in it for Big Pharma (unless you eventually become ill and drugs are needed). The way to ward off any damage by this disease is to become a blood donor. It's as simple as that! (Maybe the old doctors of the past seemingly were correct when they carried out their practices of blood letting).

    My husband is currently having venesection weekly to remove 500mls of blood pw – his blood levels were around 1350 mark - dangerously high.

    If the iron buildup continues unabated, then it's possible internal organs will be affected.

    Seeing that most people suffering from diabetes have regular blood tests, why not ask your doctor to test for iron levels in your blood together with testing for Transferrin Saturation (TS)?

    “Transferrin is a protein that binds iron in the blood serum and carries it around your body. This test measures the level of iron in your blood against the capacity of the blood iron binding protein (transferrin) to bind it. This is known as the Total Iron Binding Capacity or TIBC.”

    My last week's general fasting blood results came back with a ferritin level of 390 – at my next blood test I'll ask for the TS test (BTW my husband and I are obviously not related, but I do have a lot of Celtic blood running through my veins):

    “What ferritin level is hemochromatosis?

    Serum ferritin levels elevated higher than 200 mcg/L in premenopausal women and 300 mcg/L in men and postmenopausal women indicate primary iron overload due to hemochromatosis, especially when associated with high transferrin saturation and evidence of liver disease”

    This is from https://britishlivertrust.org.uk/in...-condition/liver-conditions/haemochromatosis/

    "What are the symptoms of haemochromatosis?

    Although haemochromatosis is inherited, the build-up of iron in the body happens quite slowly and symptoms do not usually appear until a person is aged 30 or 40 years old. In women, this is commonly closer to 50 years. For many the lifetime build-up of iron is quite small and does not cause clinical problems. When symptoms do appear, they may include the following:
    • tiredness, fatigue or lack of energy
    • a feeling of weakness in your limbs
    • pain in the joints, especially in the knuckles and in the joints of your first two fingers
    • pain in your stomach or abdomen
    • loss of libido (sex drive) and possibly
    • impotence or early menopause
    • evidence of liver damage from scarring (fibrosis) and cirrhosis
    • cardiomyopathy (disease of the heart muscle)
    • type 2 diabetes
    • a yellowing or ‘bronzing’ of the skin"
    Arthritis and gout can also be caused by this disease.
     
    • Informative Informative x 2
  2. lindisfel

    lindisfel · Well-Known Member

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    I think Ivor Cummings discussed this.
    Women up to menopause tend not be so affected.
    D.
     
  3. JenniferM55

    JenniferM55 Type 2 · Well-Known Member

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    Thank you @lindisfel - I 'thought' I'd not heard of Ivor Cummings, but on searching for him I've discovered we both follow each other on Twitter... I'm humbled :)

    He's 'The Fat Emperor' (https://thefatemperor.com/) - I've now subscribed to his youtube channel - so thanks for the intro.

    Women may not be affected up to menopause, except from experience, if a pre menopause woman goes to the doctor feeling run down, it appears to be an automatic response to prescribe a course of iron.

    Finding out at a younger age, and becoming a blood donor a couple of times of year can/will stop organ damage in later years for those with the 'Celtic Curse'! This must be one of best WIN/WINS in history!
     
  4. lindisfel

    lindisfel · Well-Known Member

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  5. Belterboy

    Belterboy · Newbie

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    Hi Jennifer,

    I am keen to share experiences with other Hereditary Haemochromatosis (HH) sufferers who have gone on to develop DM. I am told that damage to the pancreas, due to disease or surgery, leading to DM is now called Type 3c Diabetes! Which sounds much grander than the Type "One-and-a-Half" description explained to me on original diagnosis in 2016.

    Ignorance is not bliss. No-one in my family knew about HH. Tingling, pricking pain in my feet and hands made me get a blood test. FGl of 18 indicated DM, a follow up test indicated DKA, so I ended up in hospital. My Ferritin was 2400 that day. I was started immediately on daily Glargine jabs, which got the DM back under control fairly quickly. Further genetic testing confirmed HH, and 18 months and 26 venesections later my Ferritin was 50.

    This year has not been good as lockdown allowed my weight to go up, my fitness to go down, and my mood to wobble between resignation and despair. No sooner do I get one symptom sorted than some new one emerges, heartrate 85-90bpm resting, shaking hands, sleep problems etc

    Trying to work out what factor is causing what issue is becoming much harder. Each specialist will only opine on their area. Even contradicting each other. Many GPs have little knowledge or experience of long term management of HH. So you are really required to join the dots up yourself.

    If this story chimes with anyone, perhaps we can start collecting useful anecdotal data and strategies.

    Thanks
     
  6. Antje77

    Antje77 LADA · Moderator
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    Hi @Belterboy , and welcome to the forum!

    I see this is your first post, and you've chipped in on a relatively old thread with very few participants, so very few people will notice your post.
    You might like to post your own thread, for instance in the T3C section of the forum: https://www.diabetes.co.uk/forum/category/type-3c-pancreatic-diabetes.73/
    Or simply in the 'Ask a question' or 'Diabetes Discussions' part, as T3C has lots of overlap with T1, treatment wise.

    I don't have any answers on HH, but I do think that while the HH may be the cause of your T3C diabetes, the treatment of your diabetes won't be different from others with this type of diabetes, regardless of the cause, so on the diabetes part you'll find many members with similar experiences.
    I hope you'll find others with HH too, though!
     
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