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Hereditary Hemochromatosis : An Essential Mineral

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Hereditary Hemochromatosis Iron is an essential mineral in the human body. It is involved in the transport of oxygen in the blood together with the haem group. However an overload of this crucial mineral causes a chaos in the human body. This overload of iron known as a haemochromatosis is defined by Dr. Griffiths (Griffiths, 2011) as “…an autosomal recessive disorder characterized by toxic accumulation of iron”. The hereditary type was first described in 1865. But it is until 1966 that scientist were able to spot the exact gene mutation of haemochromatosis: HFE gene. The main cause of iron-overload disease is the mutation in the gene that is located in the sixth chromosome, exactly in the short arm. The mutation is called C282Y. Moreover, ferritin is a protein and“…most of the iron stored in the body is bound to ferritin. Ferritin is found in the liver, spleen, skeletal muscles, and bone marrow. Only a small amount of ferritin is found in the blood” (WebMD, 2014). The amount of ferritin in the blood shows how much iron is stored in the body. Therefor accumulation of iron that is associated with ferritin protein provoke what is called Iron overload or haemochromatosis. On the molecular stage, disruption of the HFE gene as a result of mutations associated with hereditary haemochromatosis may impair homeostatic mechanisms controlling iron absorption within the small-intestine epithelium by a direct interaction with transferrin receptor (Griffiths, Kelly Smith & Cox.

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