Hemochromatosis is a congenital condition in which an HFE gene mutation is present. So, increased iron absorption occurs irrespective of intake. More iron gets accumulated and iron storage increases. If the condition progresses, then iron gets accumulated in other organs apart from bone marrow like in liver, spleen, myocardium, joints, testes, skin, etc. Lets read more about this condition.
Hemochromatosis is a congenital condition in which an HFE gene mutation is present. So, increased iron absorption occurs irrespective of intake. More iron gets accumulated, and iron storage increases. If the condition progresses, then iron gets accumulated in other organs apart from bone marrow like in the liver, spleen, myocardium, joints, testes, skin, etc.
Iron overload can be from congenital cause or acquired cause.
In hemochromatosis, excess iron gets deposited in parenchymal cells and in other causes, iron gets deposited in macrophages and reticuloendothelial cells.
In different organs, excess iron gets deposited and leads to cell injury by two mechanisms:
Symptoms are because or iron deposition and are as follows:
500 ml of blood has to be removed once or twice a week in hemochromatosis. 500 ml blood contains 200 to 250 mg of iron which gets removed during each procedure.
The duration in congenital hemochromatosis usually includes one to two years. The aim in phlebotomy is to bring down serum ferritin level below 50 ug/L. After achievement of this level, maintenance phlebotomy is done once in three months.
2. Iron chelation
It can be given intravenously, subcutaneously or orally. Deferiprone or Deferoxamine are some of the iron chelators. It removes only 10 to 25 mg iron per procedure. So, it is not as effective as phlebotomy.
But in anemic patients, thalassemia, and hypoproteinemia patients, phlebotomy is not done, and so iron chelators need to be given.
With phlebotomy, serum ferritin levels decreased fast, but transferrin saturation level decreased slowly.
For more information consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist
Phlebotomy or venesection is the recommended treatment for hemochromatosis, which is similar to blood donation by draining about 500 ml of blood with the help of a needle. It usually consists of two stages - induction and maintenance. The former is one in which there is a frequent weekly withdrawal of blood, and in the latter, blood is taken less frequently and is to be continued for life.
Tiredness, pain in the joints and abdomen, unexplained weight loss, decreased libido are the initial signs of hemochromatosis. In addition, arthritis, liver cirrhosis, liver tumors, diabetes, cardiac irregularities, and greyish skin discoloration may also occur in hemochromatosis under extreme conditions.
In hemochromatosis, there is iron deposition in the essential organs like kidneys, heart, liver, pituitary gland, joints, and pancreas, which, if not treated, damages the vital organs and may eventually result in death. Hereditary hemochromatosis is fatal, particularly in individuals aged above 39 years, since the iron absorption is even higher.
- Red meat.
- Raw shellfish.
- Foods that are rich in Vitamin A and Vitamin C.
- Fortified foods.
- Consumption of alcohol.
- Supplements like Iron, Vitamin C, and multivitamin tablets.
High ferritin levels mean excess iron storage in your body and are most commonly associated with hemochromatosis. However, it can also be seen in conditions like rheumatoid arthritis, hyperthyroidism, diabetes, leukemia, Hodgkin's lymphoma, iron poisoning, liver diseases, and frequent blood transfusions.
- Fruits and vegetables like spinach and leafy greens, which contain non-heme iron (which is not absorbed by the intestines).
- Grains and legumes.
- Beverages like tea and coffee.
- Lean protein foods that contain less iron like chicken, turkey, and tuna.
Hemochromatosis can be hereditary and is caused by mutations in the genes responsible for maintaining iron in the body. A child can confer hemochromatosis if both his parents have hemochromatosis.
Hemochromatosis, if left untreated, can result in several severe complications like liver cirrhosis, diabetes, congestive heart failure (inadequate heart pumping), cardiac arrhythmias (irregular heart rhythm), erectile dysfunction, reduced sexual drive, amenorrhea (absence of menses), dermatologic changes like greyish or bronze discoloration of the skin.
The ideal age to test for hemochromatosis is between 18 to 30, when the condition can be detected early to avoid severe organ damage.
- Limiting the consumption of foods rich in iron.
- Regular blood donation.
- Avoiding vitamin C intake.
- Avoiding cooking in iron cookware.
- Phlebotomy or venesection (withdrawing blood).
- Iron chelation therapy (Medicine is taken orally or by injections to which iron binds and is excreted).
- Dietary modifications.
Hemochromatosis in males is manifested with similar symptoms, except that it causes erectile dysfunction and loss of sexual drive or libido, in addition.
Hypochromic microcytic anemia is associated with hemochromatosis because the red blood cells in hypochromic microcytic anemia cannot access the iron in the blood, and the excess iron stored in the liver causes hemochromatosis.
Serum ferritin levels above 200 mcg/L in menstruating women and 300 mcg/L in men and women after menopause symbolize iron overload due to hemochromatosis, specifically if it is correlated with raised transferrin saturation and a sign of liver disorder.
As secondary hemochromatosis is caused by inherited or procured anemia, it is not advisable to remove iron through phlebotomy, so iron-chelation therapy is the recommended treatment option. In this procedure, a chelating agent is introduced either orally or intravenously, which attaches to the iron and excretes it in urine.
Secondary hemochromatosis cannot be treated entirely as of now. Treatments aim at reducing the iron overload temporarily, reducing the symptoms, and limiting organ damage. If needed, they have to be continued for a lifetime.
Last reviewed at:
19 Jan 2019 - 2 min read
Query: Hi doctor, My daughter, who is 2.5 years old, is suffering from beta major thalassemia. From her 3 months of age, blood has been transfused either once in 30 or 45 days after checking the blood level. I would request you to kindly advise a good and healthy food diet. Is there any important daily die... Read Full »
Query: Hello doctor,I am a 50-year-old female who has had an elevated ferritin level for many years now. My last ferritin level was 342, 20 days back. My ferritin level has been as high as 390. My TIBC, UIBC, iron, and iron saturation have always been within normal range. My glucose has always ranged from ... Read Full »
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