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Question

What Is Hemochromatosis?


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Solution

Hemochromatosis:

  1. Hemochromatosis is an inherited condition where iron levels in the body slowly build up over many years.
  2. This build-up of iron, known as iron overload, can cause unpleasant symptoms.
  3. If it is not treated, this can damage parts of the body such as the liver, joints, pancreas, and heart.

Symptoms:

  1. Clinically, hemochromatosis has the following signs: liver cirrhosis, hand skin pigmentation, and diabetes mellitus in men over 35 years of age.
  2. It is very rarely expressed in women due to loss of iron during menses, lactation, and pregnancy.
  3. Furthermore, it is inherited dominantly with incomplete penetrance. However, some variants with early onset may have a recessive pattern of inheritance.
  4. Heterozygous individuals have increased skin pigmentation.

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