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IRON Over-Load is the most common genetic disease in the U.S.A.

Discussion in 'General Treatment' started by Radio, Jan 10, 2014.

  1. Radio

    Radio *****

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    ------------------------------------------------------------------------------------------------------------------------
    Hemochromatosis What Is It?

    Hereditary hemochromatosis (HH), also known as iron overload disease or "genetic iron poisoning", is the most common genetic disease in the U.S.A. according to the U.S. Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia. One in 8 are "silent carriers" of the single HH gene mutation and 1 in 100-200 have the double mutation putting them at high risk for developing full blown HH. HH can affect men, women and children at any age. Most of the 33 million Americans who have the HH gene mutation don’t know it but it can be diagnosed easily and quickly.

    Do you or anyone in your family (living/deceased) have (or have a family history of) these symptoms or risk factors?

    Arthritis
    Joint pain/Replacement
    Diagnosis of Fibromyalgia/Chronic Fatigue Syndrome (CFS)
    Anemia
    Hypothyroidism
    Impotence/Early menopause / Irregular periods
    Infertility /hysterectomy/no children
    Diabetes mellitus /High blood sugar
    Darkening of the skin without exposure to the sun
    Heart Disease/Heart Attack
    Stroke
    Irregular heartbeat
    bypass surgery
    Hair loss
    Weight loss
    Set off airport metal detectors for no apparent reason
    Ancestry of Celtic (Irish/Scottish/Welsh) British/Northern European origin
    Liver disease/hepatitis/cirrhosis/primary liver cancer/elevated liver enzymes
    enlarged liver/yellow skin & eyes (jaundice)
    dark urine
    red palms/Abdominal pain
    Liver and/or heart transplant.

    Ask your medical team for these HH blood tests by name: serum iron, TIBC (total iron binding capacity), and serum ferritin. Danger zone: % saturation greater than > 40% and/or ferritin greater than > 150 ng/mL. Ask for DNA testing by name for the Cys282Y & His63D mutations for both children & adults which will assess genetic risk for HH before damage occurs. Treatment is simple: bloodletting identical to a blood donation.

    Q: What are the symptoms of iron overload, hemochromatosis?

    A: Patients can have iron overload and NOT have symptoms (asymptomatic) and that is the best time to diagnose the patient. Many doctors have been taught to look for "signs and symptoms" of HH but by the time symptoms appear, it is often too late to save the patient's life. Iron overload and storage in vital body organs can damage and may cause:

    chronic fatigue (the most common complaint by patients);
    cirrhosis/cancer of the liver (with or without a history of alcohol use);
    arthritis/joint pain;
    impotence/sterility/infertility; early menopause/irregular menses;
    hair loss;
    diabetes (bronze diabetes, a darkening, graying of the skin not caused by sun exposure);
    cancer (cancer thrives on iron);
    abdominal pain/swelling;
    weight loss;
    frequent colds/flu/infections, compromised immune system;
    headaches;
    hypothyroidism;
    heart irregularities/heart failure/heart attack (especially in younger men);
    cirrhosis of the liver (with or without a history of alcohol use);
    hepatoma/liver cancer (the leading cause of death in HH);
    premature death.

    Anyone with any combination of these symptoms, or a family history of these symptoms, should be tested for HH immediately. But remember, two important facts: 1.) There can be numerous generations of "silent carriers" of the mutation who never become ill and live to old age thereby giving a "false security" that HH doesn't "run in the family" 2.) Some patients do not have symptoms until they are end stage and their lives cannot be saved. Early detection should be achieved through: 1.) Knowledge of genetic risk through DNA Testing 2.) Annual screening with serum iron, TIBC, and serum ferritin to assure that iron storage is not taking place.


    • Investigations and diagnosis
    • This involves assessment of iron overload, genetics and organ damage. These tests need careful interpretation. Assessment of iron stores?
    • Patients with suspected iron overload should first receive measurement of fasting transferrin saturation and serum ferritin, and HFE genetic testing should be performed only in those with increased transferrin saturation.
    • Serum ferritin is the most widely used biochemical test for iron overload. Serum ferritin is a very sensitive test for iron overload in haemochromatosis and normal serum concentrations essentially rule out iron overload.
    • However, ferritin has low specificity, as elevated values can be the result of a range of inflammatory, metabolic, and neoplastic conditions such as diabetes mellitus, alcohol consumption, and hepatocellular or other cell necrosis.
    • Serum iron concentration and transferrin saturation do not quantitatively reflect body iron stores and should therefore not be used alone as markers of tissue iron overload.Tests to exclude common causes of hyperferritinaemia: inflammation (check CRP), chronic alcohol consumption, liver cell necrosis (alanine aminotransferase), metabolic syndrome (blood pressure, BMI, triglycerides, and glucose), anaemia (haemoglobin, mean cellular volume and further tests depending on ethnic background - eg, testing for sickle cell disease).
    • Other tests, including endocrine investigations, may be indicated, depending on the clinical situation.
    • Investigations for other causes of abnormal liver function (eg, hepatitis serology) may be relevant.
    • HFE testing for the C282Y and H63D polymorphism should be carried out in all patients with otherwise unexplained increased serum ferritin and increased transferrin saturation.
    • C282Y homozygosity is required for the diagnosis of HFE-HC, when iron stores are increased.
    • Diagnosis of HFE haemochromatosis should not be based on C282Y homozygosity alone, but requires evidence of increased iron stores.
    • Liver biopsy In C282Y homozygote patients with increased iron stores, liver biopsy is no longer necessary to diagnose haemochromatosis.
    • It is now rarely required because genetic testing for HFE mutations is very reliable in the diagnosis of haemochromatosis in Caucasians, and the majority of patients with haemochromatosis are now diagnosed at an early stage, well before permanent tissue damage occurs.
    • Liver biopsy may still be indicated - eg, to show whether iron stores are increased or not, and in assessing liver fibrosis.
    • MRI may be useful to detect and quantify hepatic iron excess and may also help to identify heterogeneous distribution of iron within the liver, differentiate parenchymal from mesenchymal iron overload, and to detect small iron-free neoplastic lesionsoms usually start between ages 30-50, but may begin earlier.
    • Initial symptoms are usually vague and nonspecific - eg, fatigue, weakness, arthropathy affecting varus joints, nonspecific abdominal problems, erectile dysfunction and heart problems.
    • HHC may be diagnosed incidentally - eg, following abnormal serum ferritin or LFTs.
    • Symptoms of advanced disease include diabetes, bronzing of the skin, hepatomegaly and arthropathy, especially of the second and third metacarpophalangeal joints. Other presenting features of advanced disease include. Impotence, amenorrhoea or hypogonadism. Cirrhosis. Diabetes mellitus. Cardiac disease - arrhythmias or cardiomyopathy. Neurological or psychiatric symptoms - impaired memory, mood swings, irritability, depression.

    Recommendations for genetic testing:

    • General population: genetic screening for HFE-HC is not recommended, because disease penetrance is low and only in few C282Y homozygotes will iron overload progress.
    • HFE testing should be considered in patients with unexplained chronic liver disease pre-selected for increased transferrin saturation.
    • HFE testing could be considered in patients with:
      • Porphyria cutanea tarda.
      • Well-defined chondrocalcinosis.
      • Hepatocellular carcinoma.
      • Type 1 diabetes.
    • HFE testing is not recommended in patients with unexplained arthritis or arthralgia or with type 2 diabetes.
    Siblings of patients with HFE-related HHC should undergo screening, since they have a 25% chance of being susceptible. Serum ferritin and transferrin saturation should be assessed. Ideally HFE mutation analysis should be encouraged after appropriate genetic counselling.

    Investigations and diagnosis
    This involves assessment of iron overload, genetics and organ damage. These tests need careful interpretation.

    Initial investigations
    • Assessment of iron stores
      • Patients with suspected iron overload should first receive measurement of fasting transferrin saturation and serum ferritin, and HFE genetic testing should be performed only in those with increased transferrin saturation.
      • Serum ferritin is the most widely used biochemical test for iron overload. Serum ferritin is a very sensitive test for iron overload in haemochromatosis and normal serum concentrations essentially rule out iron overload.
      • However, ferritin has low specificity, as elevated values can be the result of a range of inflammatory, metabolic, and neoplastic conditions such as diabetes mellitus, alcohol consumption, and hepatocellular or other cell necrosis.
      • Serum iron concentration and transferrin saturation do not quantitatively reflect body iron stores and should therefore not be used alone as markers of tissue iron overload.
    • Tests to exclude common causes of hyperferritinaemia: inflammation (check CRP), chronic alcohol consumption, liver cell necrosis (alanine aminotransferase), metabolic syndrome (blood pressure, BMI, triglycerides, and glucose), anaemia (haemoglobin, mean cellular volume and further tests depending on ethnic background - eg, testing for sickle cell disease) LFTs. Other tests, including endocrine investigations, may be indicated, depending on the clinical situation.
    • Investigations for other causes of abnormal liver function (eg, hepatitis serology) may be relevant.
    Further investigations
    • Genetic testing
      • HFE testing for the C282Y and H63D polymorphism should be carried out in all patients with otherwise unexplained increased serum ferritin and increased transferrin saturation.
      • C282Y homozygosity is required for the diagnosis of HFE-HC, when iron stores are increased.
      • Diagnosis of HFE haemochromatosis should not be based on C282Y homozygosity alone, but requires evidence of increased iron stores.
    • Liver biopsy:
      • In C282Y homozygote patients with increased iron stores, liver biopsy is no longer necessary to diagnose haemochromatosis.
      • It is now rarely required because genetic testing for HFE mutations is very reliable in the diagnosis of haemochromatosis in Caucasians, and the majority of patients with haemochromatosis are now diagnosed at an early stage, well before permanent tissue damage occurs.
      • Liver biopsy may still be indicated - eg, to show whether iron stores are increased or not, and in assessing liver fibrosis.
    • MRI may be useful to detect and quantify hepatic iron excess and may also help to identify heterogeneous distribution of iron within the liver, differentiate parenchymal from mesenchymal iron overload, and to detect small iron-free neoplastic lesions.
     
    Last edited: Jan 10, 2014
  2. taniaaust1

    taniaaust1

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    Sth Australia
    This was one good thing about the 23andME gene health testing which now isnt available (but probably will again some time in the future). They tested for for that. Turned out I am a carrier for Hereditary hemochromatosis (1 gene) of the H63D polymorphism kind (no doctors had ever tested me for this in the 17 or so years Ive been sick). Interestingly my iron stores have been borderline low.. so the only issue would be if I passed on my single H63D gene to one of my kids and if they also had picked up a C282Y single mutation from their father.

    I hope 23andME is fully back soon (its currently only available for those after their raw data or want to find related others.. getting the raw data isstill very helpful as one can use this in geneticgene etc for methylation or detox issues or look for your status with individual genes if you know what you are looking for).
     
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  3. alex3619

    alex3619 Senior Member

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    Logan, Queensland, Australia
    One gene for haemochromatosis might actually be a good thing. It may help prevent iron deficiency anemia, and accelerate recovery after injury if any blood is lost.
     
    Radio likes this.
  4. adreno

    adreno 3% neanderthal

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    Tundras of Europa
    @Radio It would be nice if you quote your sources.
     
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  5. Helen

    Helen Senior Member

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    I have noted before that it seem to be rather many here that have posted about a high ferritin. I have wondered why and if there could be a correlation between ME/CFS and high ferritin. Maybe there isn´t at all. I didn´t know it was such a common polymorphism among caucasians. Thanks @Radio .

    If anyone reading this has a high ferritin, this study might be interesting.

    http://www.ncbi.nlm.nih.gov/pubmed/10090119
    "Serum ascorbic acid levels were associated with prevalence of elevated serum ferritin levels among women. Although the clinical relevance of these findings is uncertain, it seems prudent to suggest that women with a genetic susceptibility to iron overload should consider moderating their intake of ascorbic acid."

    Arch Intern Med. 1999 Mar 22;159(6):619-24.
    Relation of serum ascorbic acid to serum vitamin B12, serum ferritin, and kidney stones in US adults.
    Simon JA, Hudes ES.
     
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  6. Mogwai

    Mogwai

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    Auckland, NZ
    I have hemochromatosis - it was discovered when I first fell ill - some 12 and a half years ago now. However, keeping on top of it does nothing to improve my M.E. symptoms. I got M.E. after an EBV infection. In fact blood letting makes me feel worse, with the likelihood I have low blood volume.

    I have two brothers that also have hemochromatosis - both are asymptomatic.

    EDIT: As per Helen's post, I've been told to avoid supplementing with Vit C.
     
    Last edited: Jan 10, 2014
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