Cellular Effects
1.
What genetic component exists in this disease?
Hereditary hemochromatosis is a recessive disease caused by mutations in the HFE gene. When working normally, this gene regulates the amount of iron that the body absorbs. The HFE gene produces instructions for producing two proteins, the HFE protein and regulates the hepcidin protein. Hepcidin is considered the "master" iron regulatory protein, and is produced by the liver. When it works correctly, only 10% of iron is absorbed from a person's food intake. Mutations in the HFE gene change one of the amino acids used to make the HFE gene, and hinder the normal iron absorption process. One mutation replaces Cysteine with Tyrosine at position 282, (2) which stops the HFE protein from reaching cell surface and interacting with the hepcidin and transferrin receptors. This causes the iron regulatory system to be disturbed, and too much iron is absorbed as a result. (3)
If a person inherits this recessive gene from both parents, then he or she will develop hereditary hemochromatosis. If a person develops only one recessive gene, then they will not likely develop hemochromatosis, but he or she might have a slight increase in iron absorption. The disorder is inherited when mutations in the HFE gene or other genes result in increased intestinal iron absorption.
What kind of disease is it?
Hereditary hemochromatosis is a genetic disease. It is a recessive gene so one can only have this disease if both parents have hemochromatosis or are carriers of the disease. (4) However, a carrier of the disease or someone who is hemochromatosis heterozygous can still suffer from iron overload.
1. "Research." Wellcome Trust and MRC Invest in World-class Stem Cell Institute at Cambridge. N.p., n.d. Web. 27 May 2013. <http://www.cam.ac.uk/research/news/wellcome-trust-and-mrc-invest-in-world-class-stem-cell-institute-at-cambridge>.2. "Organ Under The Stomach; Produces Insulin And Enzymes - HealthCentral." Organ Under The Stomach; Produces Insulin And Enzymes - HealthCentral. N.p., n.d. Web. 27 May 2013. <http://www.healthcentral.com/diabetes/h/organ-under-the-stomach-produces-insulin-and-enzymes.html>.
3. "Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 08 May 2013. <http://www.ncbi.nlm.nih.gov/pubmed/23418762>.
4. "Effects of Hemochromatosis." Harvard. N.p., 4 Feb. 1999. Web. 23 Apr. 2013. <http://sickle.bwh.harvard.edu/hemochromatosis.html>.
Hereditary hemochromatosis is a recessive disease caused by mutations in the HFE gene. When working normally, this gene regulates the amount of iron that the body absorbs. The HFE gene produces instructions for producing two proteins, the HFE protein and regulates the hepcidin protein. Hepcidin is considered the "master" iron regulatory protein, and is produced by the liver. When it works correctly, only 10% of iron is absorbed from a person's food intake. Mutations in the HFE gene change one of the amino acids used to make the HFE gene, and hinder the normal iron absorption process. One mutation replaces Cysteine with Tyrosine at position 282, (2) which stops the HFE protein from reaching cell surface and interacting with the hepcidin and transferrin receptors. This causes the iron regulatory system to be disturbed, and too much iron is absorbed as a result. (3)
If a person inherits this recessive gene from both parents, then he or she will develop hereditary hemochromatosis. If a person develops only one recessive gene, then they will not likely develop hemochromatosis, but he or she might have a slight increase in iron absorption. The disorder is inherited when mutations in the HFE gene or other genes result in increased intestinal iron absorption.
What kind of disease is it?
Hereditary hemochromatosis is a genetic disease. It is a recessive gene so one can only have this disease if both parents have hemochromatosis or are carriers of the disease. (4) However, a carrier of the disease or someone who is hemochromatosis heterozygous can still suffer from iron overload.
1. "Research." Wellcome Trust and MRC Invest in World-class Stem Cell Institute at Cambridge. N.p., n.d. Web. 27 May 2013. <http://www.cam.ac.uk/research/news/wellcome-trust-and-mrc-invest-in-world-class-stem-cell-institute-at-cambridge>.2. "Organ Under The Stomach; Produces Insulin And Enzymes - HealthCentral." Organ Under The Stomach; Produces Insulin And Enzymes - HealthCentral. N.p., n.d. Web. 27 May 2013. <http://www.healthcentral.com/diabetes/h/organ-under-the-stomach-produces-insulin-and-enzymes.html>.
3. "Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 08 May 2013. <http://www.ncbi.nlm.nih.gov/pubmed/23418762>.
4. "Effects of Hemochromatosis." Harvard. N.p., 4 Feb. 1999. Web. 23 Apr. 2013. <http://sickle.bwh.harvard.edu/hemochromatosis.html>.