NU 531 Term Paper

NU 531 Term Paper


Hemochromatosis stands as the most prevalent genetic condition in the United States, affecting one in every nine individuals, making it an autosomal recessive condition impacting one out of every 300 Americans (Hopkins Medicine, (n.d.)). This paper aims to offer an encompassing exploration of hereditary hemochromatosis, covering its etiology, epidemiology, pathophysiology, mortality, morbidity, and comorbidities. Employing a literature review and analysis of a patient case, this research paper concludes with a discussion of treatment alternatives.

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Research on Hemochromatosis Condition

Hemochromatosis arises due to an excess of iron in the body, a condition rooted in HFE gene mutations that disrupt iron regulation, leading to imbalances. The organs primarily affected by iron overload are the liver, pancreas, and heart. While most individuals with this genetic condition do not experience severe health issues, the continuous accumulation of iron poses life-threatening risks, including heart problems, liver damage, or diabetes (Mayo Clinic, 2022). Globally, the C282Y mutation is found in approximately 1.9 percent of the population, while the H63D mutation is present in about 8.1 percent (Duchini, 2017). Hemochromatosis exhibits similar prevalence in Europe, Australia, and other Western nations, with Celtic populations displaying the highest frequency. Individuals of African heritage are less prone to developing hemochromatosis.

Hereditary hemochromatosis (HH) is an autosomal recessive condition that affects one in every 300 Americans (Hopkins Medicine, (n.d.)). Remarkably, hemochromatosis is the most widespread genetic condition in the United States, with one in every nine individuals carrying the gene. An acquired variant of this illness can result from excessive intravenous iron or blood transfusions. Diagnosis in individuals typically occurs in adulthood. This research paper will analyze a case involving a 45-year-old man diagnosed with this genetic condition. Additionally, it will delve into the definitions and explanations of etiology, epidemiology, pathophysiology, mortality, morbidity, and co-morbidity of hemochromatosis.

Referred Case

The research paper focuses on a case involving a 45-year-old man admitted to the hospital after three days of severe hematemesis and melenas (Santacoloma, Gutiérrez Londoño, & Limas, 2010). This patient had a six-year history of insulin treatment and scheduled check-ups. Notably, the patient had a history of heavy alcohol consumption leading to intoxication, particularly in the five days preceding admission. Upon admission, the patient displayed signs of pallor and poor health, with a recorded blood pressure of 90/60, a heart rate of 96 beats per minute, temperature at 97.8°F, oxygen saturation at 94% on room air, and a respiratory rate of 20 breaths per minute. The severity of the condition necessitated immediate medical attention.

Interrogation of the patient’s medical history revealed previous hospitalization for alcoholic pancreatitis two years earlier. Furthermore, the patient’s family health records indicated deaths due to cirrhosis in his father and paternal uncle before the age of 50. However, no recorded health issues were present among his siblings. This familial history is instrumental in understanding the genetic aspect of the condition. The patient received medication with crystalloid and three units of red blood cells transfusion to stabilize his hemodynamics. Infusions of Omeprazole were administered to achieve hemodynamic stability.

Etiology, Epidemiology, Pathophysiology, Mortality, Morbidity, & Co-Morbidity

Hemochromatosis results from excessive iron accumulation in the body, causing organ dysfunction (Porter & Rawla, 2021). The pathological iron levels characteristic of hemochromatosis are often referred to as bronze diabetes. In hereditary hemochromatosis, iron is predominantly stored in parenchymal cells, while transfusion hemochromatosis primarily deposits iron in reticuloendothelial cells. The iron is deposited in the form of hemosiderin. Homozygotes with a hemochromatosis gene (HFE) protein mutation are susceptible to hereditary hemochromatosis.

The HFE gene mutation, located on chromosome 6, influences the absorption of surplus iron, with the most common mutations being C282Y and H63D (Porter & Rawla, 2021). Hereditary hemochromatosis encompasses four major types: HFE-related (type 1), hemojuvelin gene mutations and hepcidin gene mutations (types 2a and 2b), transferrin receptor-2 gene mutations (type 3), and ferroportin gene mutations (type 4). The onset of these conditions occurs at different ages, with type 2 manifesting between 15-20 years, type 3 at 30-40 years, and type 4 appearing between 10-80 years.

In terms of epidemiology, hemochromatosis is prevalent in Caucasians, with rates of 1 person out of 300-500 individuals (Adams, 2015). While types 2, 3, and 4 are more common worldwide, type 1 is primarily identified in northern Europeans. Notably, men are 2-3 times more affected than women, and symptoms typically manifest earlier in men, around age 50, while women may exhibit symptoms around age 60. The gender-based differences can be attributed to biological factors, such as menstruation, leading to iron excretion in females.

The pathophysiology of hemochromatosis affects several organs, including the liver, pancreas, heart, thyroid, joints, skin, gonads, and pituitary (Golfeyz, Lewis, & Weisberg, 2018). High alcohol consumption accelerates hemochromatosis progression, contributing to hepatocellular carcinoma and cirrhosis. Heterozygotes for hereditary hemochromatosis face a 50% increased risk of diabetes. The condition also leads to joint pain, cardiac issues, hypogonadism, and skin hyperpigmentation. Erythropoietic hemochromatosis can be caused by increased red blood cell production, excessive iron in steel drum-prepared beer, or blood transfusions with iron overload or iron deficiency.

Mortality rates for hemochromatosis are relatively low, with an incidence of around 1.7 per 10,000 individuals (Duchini, 2017). Autopsy-based data shows a higher rate of 3.2 deaths per 10,000. Mortality rates are higher for individuals over 50 years of age and infants, with men experiencing higher mortality rates than women. Racial disparities are evident, with Black individuals and other groups displaying higher mortality rates than Whites. Untreated hemochromatosis can lead to severe organ damage, potentially resulting in serious health conditions or death. Timely medical support can save lives and promote long-term health.

A study conducted between 1959 and 1983 examined the causes of death and survival rates of 163 hemochromatosis patients (Strohmeyer, Niederau, & Stremmel, 1988). The study found that individuals with hemochromatosis and other concurrent conditions had lower survival rates compared to those without additional conditions. Patients with comorbidities such as liver cirrhosis and diabetes experienced higher mortality rates due to iron accumulation causing health complications. Venesection therapy, which depletes iron in the body, was found to enhance survival rates, particularly when completed within the first 18 months of diagnosis. The cumulative survival rate was 76% for the first 10 years, decreasing to 46% for 20 years, emphasizing the importance of iron level reduction.

Comorbidity, defined as the presence of two or more medical conditions simultaneously, poses risks to hemochromatosis patients (Ann Fam Med, 2009). Comorbidities are associated with higher death risks and increased healthcare costs (Valderas, Starfield, Sibbald, Salisbury, & Roland, 2009). Managing both hemochromatosis and coexisting conditions can be complex and may complicate treatment. Hemochromatosis is often diagnosed alongside other conditions like cirrhosis or diabetes, as patients may be unaware of their genetic mutations causing excessive iron absorption, which ultimately leads to iron overload and organ dysfunction.

Typical clinical findings of iron overload in the body may result from familial hereditary factors, blood transfusions for anemic individuals, undiagnosed organ damage, or increased transferrin saturation (TSAT). A differential diagnosis and post-diagnostic tests are employed to evaluate iron accumulation. Genetic diagnosis of hereditary hemochromatosis is a significant scientific breakthrough (Baas, Rishi, Swinkels, & Subramaniam, 2021). It offers insights into the genetic variants contributing to the condition, enhances patient guidance, and facilitates the treatment of coexisting conditions, ultimately extending patients’ lifespans.

Treatment for hereditary hemochromatosis focuses on controlling iron absorption (Kawabata, 2018). Early genetic diagnosis is crucial to prevent irreversible organ damage. While genetic diagnosis may not be feasible for all patients, those with family members diagnosed with the condition should be considered for testing. Raising awareness of hemochromatosis is vital in preventing its progression and saving lives.


Hemochromatosis is a complex condition with wide-ranging implications, affecting individuals at the genetic, medical, and epidemiological levels. While it can manifest as a seemingly benign genetic mutation, its insidious accumulation of iron in the body can lead to severe health consequences if left untreated. This research paper has provided an in-depth exploration of the condition, from its genetic underpinnings to its impact on patients’ health and overall survival. As genetic research and medical interventions continue to evolve, early diagnosis and awareness are crucial in managing and treating hemochromatosis effectively, ensuring a healthier life for those affected by this condition.


Adams, P. C. (2015). Epidemiology and diagnostic testing for hemochromatosis and iron overload. International journal of laboratory hematology37, 25-30.

Ann Fam Med (2009). Defining Comorbidity: Implications for Understanding Health and Health Services. Retrieved from:

Baas, F. S., Rishi, G., Swinkels, D. W., & Subramaniam, V. N. (2021). Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants. Clinical Chemistry67(10), 1324-1341.

Bacon, B. R., & Kwiatkowski, J. L. (2019). Approach to the patient with suspected iron overload.

Bacon, B. R. & Kwiatkowski, J. L. (2021). Patient education: Hereditary hemochromatosis (Beyond the Basics). Retrieved from:

Duchini, A. (2017). What is the global prevalence of hemochromatosis? Retrieved from:,among%20patients%20of%20African%20descent. 

Duchini, A. (2017). What is the mortality rate for hemochromatosis? Retrieved from:,10%2C000%20deaths%20in%20autopsy%20series.

Golfeyz, S., Lewis, S., & Weisberg, I. S. (2018). Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. Expert review of gastroenterology & hepatology12(8), 767-778.

Hopkins Medicine. (n.d.). Hemochromatosis. Retrieved from:

Kawabata, H. (2018). The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. International journal of hematology107(1), 31-43.

MAYO Clinic. (2022). Hemochromatosis. Patient Care & Health Information. Retrieved from:,disease%2C%20heart%20problems%20and%20diabetes.

Porter, J. L., & Rawla, P. (2021). Hemochromatosis. StatPearls [Internet].

Santacoloma, M., Gutiérrez Londoño, H., & Limas, L. M. (2010). Hereditary hemochromatosis: presentation of 2 cases and literature review. Revista colombiana de Gastroenterología25(2), 198-203.

Strohmeyer, G., Niederau, C., & Stremmel, W. (1988). Survival and causes of death in hemochromatosis. Observations in 163 patients. Annals of the New York Academy of Sciences526, 245-257.

Valderas, J. M., Starfield, B., Sibbald, B., Salisbury, C., & Roland, M. (2009). Defining comorbidity: implications for understanding health and health services. The Annals of Family Medicine, 7(4), 357-363.

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