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Hemochromatosis and Iron Overload: Causes, Diagnosis, Clinical Presentation and Management

Written by
Dr. Parth R Goswami
and medically reviewed by iCliniq medical review team.

Published on Jun 19, 2018 and last reviewed on Jan 19, 2019   -  2 min read

Abstract

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 and Iron Overload: Causes, Diagnosis, Clinical Presentation and Management

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.

Etiology

Iron overload can be from congenital cause or acquired cause.

Congenital causes:

  1. Hemochromatosis.

Acquired causes:

  1. Ineffective erythropoiesis like in case of thalassemia, megaloblastic anemia, sideroblastic anemia.
  2. Alcoholic cirrhosis.
  3. Blood transfusion.
  4. Anemia of chronic disease.
  5. Atransferinemia.
  6. Hemolytic conditions, etc.

Clinical Presentation

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:

  1. Free radical formation.
  2. Lysosomal breakage leads to the release of hydrolytic enzymes.

Symptoms

Symptoms are because or iron deposition and are as follows:

  1. Skin: pigmentation.
  2. Myocardium: cardiomyopathy and heart failure.
  3. Liver: hepatitis and cirrhosis.
  4. Spleen: splenomegaly.
  5. Pancreas: diabetes.
  6. Joints: arthropathy.
  7. Testes: hypogonadism and testicular atrophy.

Diagnosis:

  1. Liver biopsy.
  2. Bone marrow biopsy (In the biopsy of these two organs, iron deposition is seen as golden brown deposits).
  3. Serum ferritin increased as it reflects iron store.
  4. Transferrin saturation increased.

Treatment Modalities

1. Phlebotomy

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.

Footnote

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

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Frequently Asked Questions


1.

What Is the Most Suitable Treatment for Hemochromatosis?

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.

2.

What Are the Manifestations of Hemochromatosis?

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.

3.

Is Hemochromatosis Lethal?

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.

4.

What Are the Foods to Be Withdrawn in Hemochromatosis?

- 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.

5.

Does It Indicate Hemochromatosis if My Ferritin Is High?

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.

6.

What Diet Is Recommended for Hemochromatosis?

- Fruits and vegetables like spinach and leafy greens, which contain non-heme iron (which is not absorbed by the intestines).
- Grains and legumes.
- Eggs.
- Beverages like tea and coffee.
- Lean protein foods that contain less iron like chicken, turkey, and tuna.

7.

Do Hemochromatosis Run in Families?

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.

8.

What Is the Result of Untreated 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.

9.

What Is the Correct Age to Test for Hemochromatosis?

The ideal age to test for hemochromatosis is between 18 to 30, when the condition can be detected early to avoid severe organ damage.

10.

What Should I Do to Decrease My Iron Levels Promptly?

- Limiting the consumption of foods rich in iron.
- Regular blood donation.
- Avoiding vitamin C intake.
- Avoiding cooking in iron cookware.

11.

How Can We Eliminate Iron From the Body?

- Phlebotomy or venesection (withdrawing blood).
- Iron chelation therapy (Medicine is taken orally or by injections to which iron binds and is excreted).
- Dietary modifications.

12.

What Are the Signs of Hemochromatosis in a Male?

Hemochromatosis in males is manifested with similar symptoms, except that it causes erectile dysfunction and loss of sexual drive or libido, in addition.

13.

Which Type of Anemia Is Associated With Hemochromatosis?

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.

14.

What Level of Ferritin Is Seen in 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.

15.

What Is the Treatment for Secondary Hemochromatosis?

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.

16.

Is Hemochromatosis Curable?

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

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