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type 1 hemochromatosis

pathology

Quick Summary

Type 1 hemochromatosis is an inherited metabolic disorder where the body absorbs too much iron. This excess iron accumulates in tissues, leading to symptoms such as skin pigmentation, diabetes, and enlargement of the spleen and liver. It can also cause cirrhosis, heart failure, and arthritis.12

This condition is caused by mutations in the HFE gene, which regulates iron absorption. Type 1 is the most common form and primarily affects individuals of northern European descent. Symptoms typically appear in men between 40 and 60 years old and in women after menopause. Treatment involves regular blood removal (phlebotomy) to reduce iron levels.1

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