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
Last reviewed at:
19 Jan 2019 - 2 min read
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