Blood Health

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

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

Last reviewed at:
19 Jan 2019  -  2 min read

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Related Questions & Answers


What diet will you recommend for a beta major thalassemia patient?

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 >>


Answer: Hi, Welcome to icliniq.com. Based on your query, my opinion is as follows: Thalassemia is a disease due to reduced globin production in the hemoglobin part of RBC (red blood cells). It is not due to nutritional deficiency, but due to inherited mutation abnormalities. Yes, nutrition requires improvem...  Read Full

What can be done for elevated ferritin levels in a 50-year-old?

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 >>


Dr. Parth R Goswami
Family Physician, General Practitioner, Hematologist, Pathologist

Answer: Hello, Welcome to icliniq.com. Elevated ferritin could be from congenital hemochromatosis but HFE gene mutation is negative, so it is excluded (attachment removed to protect patient identity). Secondly, a hemolytic condition also can be a possibility but serum LDH (lactic acid dehydrogenase), reti...  Read Full

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