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11. Haemochromatosis: Difference between revisions

11. Haemochromatosis (view source)

Revision as of 10:47, 5 July 2024

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'''Organ''': Liver, small intestine, kidney
[[File:Haemochromatosis preparation.png|thumb|Haemochromatosis preparation]]'''Organ''': Liver, small intestine, kidney


'''Description''': We can see a slice of liver in the front, a piece of small intestine behind it, and a kidney in the bottom. The organs are blue or bluish. The liver is especially blue.
'''Description''': We can see a slice of liver in the front, a piece of small intestine behind it, and a kidney in the bottom. The organs are blue or bluish. The liver is especially blue.
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** Decreased iron utilization
** Decreased iron utilization


'''Theory''':[[File:Haemochromatosis preparation.png|thumb|Haemochromatosis preparation]]In hemosiderosis the hemosiderin pigment is accumulating in cells but there is no tissue damage. In haemochromatosis however, the pigment is accumulating ''and'' there is tissue damage. These preparations are not stored in formalin but in Prussian blue, a stain that stains iron blue. The liver, being a metabolic organ, is logically the bluest. However, since hemochromatosis is a systemic process, all organs are filled with iron to some extent, which is why the kidney and small intestine are also stained blue.
'''Theory''':
 
In hemosiderosis the hemosiderin pigment is accumulating in cells but there is no tissue damage. In haemochromatosis however, the pigment is accumulating ''and'' there is tissue damage. These preparations are not stored in formalin but in Prussian blue, a stain that stains iron blue. The liver, being a metabolic organ, is logically the bluest. However, since hemochromatosis is a systemic process, all organs are filled with iron to some extent, which is why the kidney and small intestine are also stained blue.


We distinguish primary and secondary haemochromatosis. The primary (or hereditary) type is the most severe and is caused by a missense mutation in the HFE-gene. The HFE protein usually stops the absorption of iron when the transferrin receptor is saturated. However, in this type of mutation the HFE gene won’t stop the absorption of iron in this case, which causes iron overload in the body. Secondary haemochromatosis can be caused by multiple factors, none of which have anything to do with the HFE gene. The causes are listed above.
We distinguish primary and secondary haemochromatosis. The primary (or hereditary) type is the most severe and is caused by a missense mutation in the HFE-gene. The HFE protein usually stops the absorption of iron when the transferrin receptor is saturated. However, in this type of mutation the HFE gene won’t stop the absorption of iron in this case, which causes iron overload in the body. Secondary haemochromatosis can be caused by multiple factors, none of which have anything to do with the HFE gene. The causes are listed above.