Hereditary Hemochromatosis By: Jason Roman

Disease: Hereditary Hemochromatosis

- Hereditary Hemochromatosis is caused by an abnormal HFE gene, located in chromosome 6.

- The defective HFE gene creates the Hereditary Hemochromatosis Protein, which will form the disorder of Hereditary Hemocrhomatosis.

The disorder Hereditary Hemochromatosis was discovered in 1865 by Dr. Armand Trosseau. The disease occurs in 1/10 people in the US, and 1/10 in the world. However, the disorder is only diagnosed in every 1/300-1/400 people.

Hereditary Hemochromatosis is the inability to keep iron levels in the body low. In this disease the person is unable to get rid of enough iron and the body will function improperly.

Symptoms

- Some common symptoms of Hereditary Hemochromatosis are: Extreme Fatigue, Sexual Dysfunction, Joint Pain, Irregularity in Blood Glucose & Insulin Levels, and Bronze colored Skin.

- The disease can be diagnosed by blood testing, and Liver Biopsies, which show how much iron is in the liver and this can diagnose the disease be if the patient has too much iron in their liver than they could possibly have Hereditary Hemochromatosis.

Treatment

- Phlebotomy is a common way to treat Hereditary Hemochromatosis. Phlebotomy is a process in which blood is removed from a patient until iron levels are returned to normal, and blood is then added back in that does not have an overload of iron.

-Men are affected more than women by Hereditary Hemochromatosis because women often lose blood through menstruation.

Hereditary Hemochromatosis is inherited by an Autosomal Recessive Trait.

Prognosis of Patients Diagnosed: Only 5% of men and 1% of women with Hereditary Hemochromatosis will certainly develop liver problems, but most, if treated early will have no decrease in life expectancy, or become linked to a liver related issue from their Hereditary Hemochromatosis.

Current Research

Studies have been conducted to see the affects of the disorder. Many used to think that the disorder was connected with devastating diseases, such as cancer, cardiovascular disease, and much more. However, studies have contradicted that statement saying that someone who had Hereditary Hemochromatosis has the same likelihood of developing bad diseases as someone who never had the disorder.

Citations

“Autosomal Recessive.” DNA Direct, DNA Direct Inc, 2013, services.dnadirect.com. Accessed 5 Feb. 2017.

“Classic Hereditary Hemochromatosis.” NORD, National Organization for Rare Disorders Inc., 2016, rarediseases.org. Accessed 5 Feb. 2017.

“Current Directions in Hemochromatosis Research: Towards an Understanding of the Role of Iron Overload and the HFE Gene Mutations in the Development of Clinical Disease.” NCBI, PubMed.gov, 2017, www.ncbi.nlm.nih.gov. Accessed 5 Feb. 2017.

“Haemochromatosis.” Patient, Patient Platform Limited, 2017, patient.info. Accessed 5 Feb. 2017.

“Haemochromatosis - Animation.” YouTube, 2014, www.youtube.com. Accessed 5 Feb. 2017.

“Hemochromatosis.” Infobase, Infobase Learning, 2017, online.infobase.com. Accessed 31 Jan. 2017.

“Hemochromatosis (Iron Overload).” Med India Network for Health, Medindia, 2017, www.medindia.net. Accessed 5 Feb. 2017.

“Hereditary Hemochromatosis.” Planet Naturopath, 2016, www.planetnaturopath.com. Accessed 5 Feb. 2017.

“Hereditary Hemochromatosis Protein Isoform 1 Precursor.” NCBI, NCBI Protein Blast Database, 2017, www.ncbi.nlm.nih.gov. Accessed 31 Jan. 2017.

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