Doctor insights on:
Non Genetic Hemochromatosis
Partly true: The disorder is called hereditary hemochromatosis and it is an autosomal recessive disorder. Meaning it is passed from parent to offspring, people can be carriers of the gene, and you have to have 2 copies of the gene to have the disorder: one from the father and one from the mother. Hemochromatosis is an iron overload which can have other causes than hereditary hemochromatosis though. ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
Inherited: Most primary hemochromatosis is passed parent-to-child, especially if each parent supplies one defective gene, though people with a single dose may be affected. If you're not familiar with basic genetics, you need to become familiar with the terminology as it's basic to life and understanding health and disease in the 21st century. ...Read more
If hemochromatosis is a genetic disease, should other family members be tested? Which ones and when?
Yes: Hemochromatosis is the most common of genetic diseases. It can have variable penitrance and manifest briskly or insiduoulsy. It is usually not manifest until the 4th or 5th decade of life and usually in males since women lose blood/iron with menses. A blood test can be done to diagnose and for genetics. Counsel with your pcp, hematologist or geneticist. Great sources on the web. I have it! ...Read more
Iron studies panel was abnormal indicating Hemochromatosis. Doc sent me for genetic blood test to confirm. If this is positive, what is the treatment?
Blood letting: The treatment is relatively simple. Periodically, some of your blood is drained out to remove iron along with your red cells. Done regularly it would prevent excess iron accumulation and the usual damage excess iron causes. ...Read more
Is it normal for someone healthy with treated genetic hemochromatosis to have high bilirubin, ph 9, & 30mg protein in urinalysis? I'm breastfeeding.
High bilirubin worry: Worrisome. Not knowing your medical history, I suggest strongly that you see your physician to determine whether you in fact have progressive hepatic fibrosis and whether your hemochromatosis was in fact successfully treated, and/or to determine the cause of your hyperbilirubinemia. ...Read more
How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?
Blood tests: Iron and TIBC (total iron binding capacity) can be used to detect iron overload (iron/tibc >45 increases suspicion). Hemochromatosis, one cause for iron overload, can be detected by a gene study. As a general rule, patients with hemochromatosis are referred to gastroenterologist for a liver biopsy, as iron overload can do significant damage to the liver. ...Read more
I have genetic hemochromatosis my ferritin level before last phlebotomy was 318 hemoglobin 187 my wbc 11 and my platelet count 454. I'm so confused!
Talk about it: The key is that you're getting treated. Your physician will try to keep your ferritin fairly low. That platelet count is fine. The white count has little to do with your hemochromatosis status. I'm really glad this got picked up. If it's missed, it's slow, miserable and deadly. Of all the very-very-serious diseases, it's the easiest to manage. Best wishes. ...Read more
It is iron overload: Hemochromatosis is a disease in which the body acculumates excessive iron and treatment of choice is to donate blood regularly until your iron level is down to normal/near normal range. Since it is a state of iron excess, you should minimize foods high in iron--spinache, redmeats, egg yokes, clams/oysters, beans, liver, artichokes etc...Check with doc regularly. Good luck. ...Read more
I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?
No way to avoid iron: Need further details but you should know that Hemochromatosis mutation analysis only diagnostic if a sibling has it. The phlebotomy treatment aims to lower your ferritin to 50 ng/ml or less. The best screen is % saturation of TIBC (total iron-binding capacity), calculated from your TIBC and your serum iron. If 45% or higher, then a ferritin >300 ng/mL in men and >200 ng/ml in women is diagnostic ...Read more
Many times, it is only presented with high iron saturation and or iron storage without having any symptoms.
However, the clinical manifestations of iron accumulation can include liver disease, elevation of liver enzymes, skin pigmentation, diabetes mellitus, arthropathy, impotence in males, and cardiac enlargement with or without heart failure or conduction defects etc. ...Read more
Easy Rx: The key is that you got diagnosed, hopefully early. 1 person in 200 will be symptomatic with this. I'm going to assume the diagnosis is correct & it's common hemochromatosis. You'll have a pint of blood drained maybe 2x/week until you feel better / labs turn good. The blahs, thumb pain, lackluster love life, and whatever else will improve. Untreated, it kills you, treated you do great. ...Read more
Death if untreated: Thankfully, if it's picked up early, you're spared decades of ill-health and ultimately death from involvement of the heart, liver, and/or endocrine pancreas. Of all the really nasty common diseases, hemochromatosis is the easiest to treat, by blood-bank-style donations. ...Read more
Too much bodily iron: As a result of the inability to increase iron loss, iron overload is an inevitable response to increased iron entry into the body. This can occur by one of three mechanisms - nutritional intake, increased absorption, parenteral sources (i.e. Transfusions). Hemochromatosis is abnormally high absorption of iron as result of a genetic defect. Extra iron can be toxic. ...Read more
1 in 200: It's extremely common, and of all the common, serious diseases, it is the easiest to manage. If it's discovered relatively late, the person realizes they've had "the blahs" for years once phlebotomy removes the excess iron. ...Read more
Can be deadly: Over time, excesses of iron build up in major organs such as the heart, liver, pancreas, joints and pituitary. If the extra iron is not removed, these organs can become diseased, causing conditions like diabetes mellitus, irregular heart beat or heart attack, arthritis, cirrhosis of the liver or liver cancer, gall bladder disease, depression, impotence, infertility, hypothyroidism, hypogonadism. ...Read more
Iron: 400 characters aren't enough; there are websites, books and journal articles. These folks absorb iron too easily through the gut, and it ends up in the liver, heart, and endocrine pancreas where the atoms generate free radicals that do damage. ...Read more
Yes: A good screen for common hemochromatosis is the transferrin saturation, the ratio of iron to iron binding capacity in the blood. Liver enzymes will also be drawn. More than 50% in a woman or 60% in a man is suggestive; follow-up may include serum ferritin, a more costly blood test which if much elevated confirms the diagnosis. ...Read more
A few: Lack of energy, abdominal pain, memory fog, loss of sex drive, heart flutters, irregular heart beat. When symptoms are associated with hemochromatosis, these usually begin in men in their late 20’s to early 30’s. In women, symptoms usually start about 10-15 years after they stop having a period due to menopause, birth control pills or hysterectomy. ...Read more
Yes: Over time, excesses of iron build up in major organs such as the heart, liver, pancreas, joints and pituitary. If the extra iron is not removed, these organs can become diseased, causing conditions like diabetes mellitus, irregular heart beat or heart attack, arthritis, cirrhosis of the liver or liver cancer, gall bladder disease, depression, impotence, infertility, hypothyroidism, hypogonadism. ...Read more
Yes: Hemochromatosis is caused by genetic predisposition to excessive iron storage. It can be treated with removal of iron- usually by recurrent phlebotomy. If you mean spontaneously go into remission, then usually no, it cannot without treatment. In some cases, though, the iron transport/ storage is facilitated by excess alcohol use- in that situation stopping alcohol will improve things. ...Read more
Labs and Bx: Labs that include ferritin and transferrin saturation. All patients being evaluated for hhc should have c282y and h63d mutation analysis. This may help in determine risk for hhc but is not always diagnostic by itself. Lastly a liver biopsy with a iron index or MRI may help to confirm suspected cases. ...Read more
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