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Essay Sample On Genetic Diseases: Hemochromatosis

Introduction and Causes of the Disorder

Hemochromatosis is a genetic disorder altering the body’s regulation of iron absorption. Approximately one million Americans have Hereditary Hemochromatosis (HH), while Caucasians of Northern European descents are at the highest risk (Katsarou et al., 2019). HH occurs when the body absorbs excessive iron due to faulty regulatory mechanisms. The inability to regulate absorption leaves excess iron deposits in the heart, liver, and pancreatic cells (Mayo Clinic, 2020). A correct diagnosis leads to easy and effective treatment, while delays can lead to severe organ damage expressed as heart, liver and joint diseases, diabetes, or liver cancer.

Gene Expression of HH

Recent studies attribute HH to mutations in the homeostatic iron regulator (HFR) gene, which expresses as C282Y and H63D mutations. HH expresses as juvenile, neonatal or secondary Hemochromatosis (Katsarou et al., 2019). Juvenile Hemochromatosis causes similar problems in young people as adults caused by changes in hepcidin and hemojuvelin genes. Next, Neonatal Hemochromatosis is a severe expression of the hereditary disorder with iron building up rapidly in the liver of developing babies in the womb (Katsarou et al., 2019). Last, Secondary Hemochromatosis is non-hereditary but results from excessive iron build-up from multiple blood transfusions in cases of anemia or liver diseases.

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Justification for the View

Hemochromatosis is an inherited disorder caused by a mutation in the C282Y and H63D genes. A child is highly likely to develop the disease by inheriting the mutated gene from every single parent (Mayo Clinic, 2020). However, possessing the mutated copies of the C282Y gene does not guarantee that one will develop symptoms of Hemochromatosis. Some children become carriers by inheriting one mutated gene copy or express mild symptoms because one correct gene copy regulates iron absorption adequately (Mayo Clinic, 2020). Nevertheless, even silent carrier parents have a 25% likelihood of passing the faulty gene to their children.

Clarifying Question

  1. What is the onset of HH expression in women after menopause, particularly when iron loss during menstruation or pregnancy decreases?


Katsarou, M., Papasavva, M., Latsi, R., & Drakoulis, N. (2019). Hemochromatosis: Hereditary hemochromatosis and HFE gene. Vitamins and Hormones, 110, 201-222.

Mayo Clinic. (2020, December 30). Hemochromatosis – Symptoms and causes.


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