Medifocus Guidebook on Hereditary Hemochromatosis

A Comprehensive Patient Guide to Symptoms, Treatment, Research, and Support

Updated: June 29, 2018
155 Pages


What is Hereditary Hemochromatosis

Hereditary hemochromatosis is a genetic disorder that is one of a group of conditions known as iron-overload diseases. It is the most common inherited liver disease in Caucasians and the most common autosomal recessive genetic disease. In patients with hereditary hemochromatosis, the intestines absorb too much iron from food that is ingested and they continue to absorb additional iron, although there are sufficient amounts already stored. The excess iron is distributed throughout the body and slowly accumulates in several organs, including the heart, liver, pancreas, spleen, and skin, as well as in joints and some glands (e.g., pituitary gland). The presentation and severity of hereditary hemochromatosis symptoms are related to the degree of iron accumulation. Classic biochemical features of hemochromatosis include elevated levels of serum ferritin levels and serum transferrin saturation percentage.

While hemochromatosis is not curable at this time, the good news is that early diagnosis and treatment can effectively reduce the body's iron overload, prevent organ damage, and enable patients to lead normal and productive lives. Even if organ damage has already occurred, the initiation of treatment usually prevents further progression of complications. If left untreated, progressive accumulation of iron in the liver, pancreas, heart, joints, and the pituitary gland can lead to potentially serious and life-threatening diseases such as:

  • Cirrhosis of the liver (formation of scar tissue and fibrosis)
  • Liver failure
  • Arthritis
  • Hypogonadism (underactive sex organs)
  • Diabetes mellitus
  • Arrhythmia (irregular heart beats)
  • Congestive heart failure
  • Hepatocellular carcinoma (primary liver cancer)

The severity, frequency, and iron accumulation rate in patients with hereditary hemochromatosis varies widely and is related to several factors, including:

  • Age - hereditary hemochromatosis is typically associated with middle age
  • Gender - males are typically diagnosed with hereditary hemochromatosis at an earlier age than females
  • Dietary habits - such as alcohol consumption, intake of vitamin C and iron supplements
  • Pattern of genetic mutations
  • Presence of other diseases (co-morbid conditions)

Hereditary hemochromatosis is also known as the "Celtic disease" as it is believed to be of Celtic origin. It is most prevalent in locations with significant populations of Celtic descent, such as Ireland, the United Kingdom, Northern Europe, Australia, and the East coast of the United States.

Hereditary hemochromatosis is the most common genetic disorder that affects Caucasians, which makes it surprising that most people have never heard of it. Lack of appreciation for the frequency of this genetic disorder often leads to underdiagnosis or misdiagnosis of the condition. The U.S. Centers for Disease Control and Prevention (CDC) reports that most patients visit three doctors before being correctly diagnosed with hereditary hemochromatosis.

Important facts about hereditary hemochromatosis in North America include:

  • The condition affects 1 out of every 200 to 250 Caucasians.
  • Men are twice as likely to develop hereditary hemochromatosis as women.
  • According to the CDC, the average age at diagnosis for men is 51 and for women, age 66.
  • Women are typically diagnosed in the postmenopausal years, since menstruation naturally depletes iron levels so that evidence of iron overload is masked.
  • Hereditary hemochromatosis is rarely found in indigenous populations of Africa, Asia, or the Pacific Islands.
  • The prevalence of hereditary hemochromatosis in Caucasians is six times higher than in African Americans.
  • The prevalence of hereditary hemochromatosis among the Hispanic population is rising.

Knowledge is Critical when Dealing with a Life-Altering Condition such as Hereditary Hemochromatosis

If you or a loved one has been diagnosed with hereditary hemochromatosis, it's critical to learn everything you possibly can about this condition so that you can make informed decisions about your treatment. That's why we created the Medifocus Guidebook on Hereditary Hemochromatosis, a comprehensive 155 page patient Guidebook that contains vital information about hereditary hemochromatosis that you won't find anywhere in a single source.

The Medifocus Guidebook on Hereditary Hemochromatosis starts out with a detailed overview of the condition and quickly imparts fundamentally important information about hereditary hemochromatosis, including:

  • The underlying causes of hereditary hemochromatosis.
  • The risk factors that increase a person's chances for developing hereditary hemochromatosis.
  • A detailed discussion of iron metabolism in healthy individuals as compared to people with hereditary hemochromatosis.
  • The role of important iron-regulating proteins, such as ferritin, transferrin, and hepcidin, in the origin and progression of hereditary hemochromatosis.
  • A comprehensive overview of the specific genetic mutations that have recently been linked to hereditary hemochromatosis, including the risks of parents transmitting the disease to their children.
  • The guidelines issued by professional medical societies for screening special subgroups of people for hereditary hemochromatosis by genetic testing.
  • The signs and symptoms associated with hereditary hemochromatosis.
  • The role of special blood tests in confirming the diagnosis of hereditary hemochromatosis, including:

    • Serum iron test
    • Fasting serum transferrin saturation percentage
    • Serum ferritin test
    • Unsaturated iron binding capacity
    • Genetic testing
    • Quantitative phlebotomy
  • The secondary complications that may develop in some patients with hereditary hemochromatosis as a consequence of iron overload causing damage to specific organs which may lead to specific diseases involving the:

    • Liver
    • Heart
    • Endocrine glands
    • Joints
    • Skin

Understanding the Standard Treatments... and the Treatment Options

The primary goals of treatment for patients with hereditary hemochromatosis, include:

  • Prevent damage to vital organs of the body that can develop as a consequence of iron overload disease.
  • Quickly and effectively diagnose and treat any secondary complications that patients with hereditary hemochromatosis may develop.
  • Enable patients to function and perform routine activities of daily living and lead a reasonably good quality of life.

Understanding the standard treatments - and the treatment options - is critical for successfully achieving the goals of treatment for hereditary hemochromatosis. As you read through the section of the Guidebook that focuses on the treatments for hereditary hemochromatosis, you will specifically learn about:

  • Why therapeutic phlebotomy - removal of blood from the body - is considered as the first-line approach for the management of many people with hereditary hemochromatosis.
  • The objectives of therapeutic phlebotomy, including the initial phase and the maintenance phase of treatment.
  • The side-effects of therapeutic phlebotomy, including tips and suggestions for better coping with the side-effects.
  • The treatment options that are available for patients with hereditary hemochromatosis who either cannot tolerate therapeutic phlebotomy or are not considered as appropriate candidates for this treatment modality, which include:

    • Patients with severe anemia
    • Patients with another underlying blood disorder that results in poor bone marrow function
    • Patients with poorly accessible veins that are not suitable for multiple blood drawings
  • The role of liver transplantation in people with hereditary hemochromatosis who develop end-stage liver disease and who are at high-risk for developing cancer of the liver.

  • The role of diet modification in the management of people with hereditary hemochromatosis, including recommendations for avoiding or reducing the dietary intake of certain foods and beverages.
  • The prognosis (outlook) for people with hereditary hemochromatosis and the important factors that have a significant impact in predicting the overall chances of recovery.
  • Quality of life issues that often confront people with hereditary hemochromatosis and how to minimize their impact and cope better with these issues.
  • Important questions to ask your doctor about hereditary hemochromatosis.

A "One-of-a-Kind" Reference Guidebook on Hereditary Hemochromatosis that Goes Way Beyond the Fundamentals

Since 1996, when Medifocus was founded, we've learned that many people with Hereditary Hemochromatosis are seeking more specific information that goes beyond the fundamentals, such as the causes, diagnosis, standard treatments, and treatment options. That's why we developed a "one-of-a-kind" reference Guidebook that goes way beyond the basics and also includes the following sections:

  • A Guide to Recent Medical Literature on Hereditary Hemochromatosis - This section of the Guidebook contains an extensive bibliography of over 100 references to recently published articles about Hereditary Hemochromatosis in authoritative, peer-reviewed medical journals with links to the absracts (summaries) of the articles. These articles represent the latest advances in the field and focus on cutting-edge research, new developments, and the lessons learned from recently published clinical trials involving patients with Hereditary Hemochromatosis. This is the same level of that is used by doctors who treat people with Hereditary Hemochromatosis to keep abreast of the latest developments and breakthroughs in this specialized field of medicine.

  • Centers of Research for Hereditary Hemochromatosis - We've compiled a unique directory of doctors, hospitals, medical centers, and research institutions with special interest and, in many cases, clinical expertise in managing people with Hereditary Hemochromatosis. The "Centers of Research" directory is a valuable resource for quickly identifying and locating leading medical authorities and medical institutions both within the United States and other countries who are considered to be at the forefront in clinical research and treatment of Hereditary Hemochromatosis. You'd have to spend days - or even weeks - attempting to compile your own list of doctors and medical centers but, with the "Centers of Research" directory, the information is already right at your fingertips. All you have to do is act on the information by selecting and contacting the experts or medical institutions listed in the directory by state and country.

  • Organizations and Support Groups for Hereditary Hemochromatosis - The Guidebook also includes a directory of organizations and support groups whose goal is to help people with Hereditary Hemochromatosis by providing access to information, resources, and services. Many of these organizations can answer your specific questions, enable you to "network" with other patients, and provide guidance in areas such as financial, social, or medical-legal issues. This valuable directory of organizations and support groups includes complete contact information, including phone numbers and E-mail addresses.

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Medifocus Guidebook on Hereditary Hemochromatosis

Updated: June 29, 2018
155 Pages

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What Our Customers Are Saying...

"The MediFocus Guidebook on Hereditary Hemochromatosis was not only extremely informative and well-written but it also explained the genetic aspects of this condition in a way that can be readily understood even by people who donít have a medical or scientific background. I was pleased to learn that so much research is ongoing worldwide to try to better understand the causes of this condtion and, hopefully, come up with a way to prevent this disorder from happening in the first place."
Perth Amboy, New Jersey

"Your Guidebook on Hereditary Hemochromatosis contains a wealth of information that has helped our family answer many of the questions we had about this relatively obscure genetic disease. The Guidebook allowed us to fully understand the disease and know what to ask...and who to ask to additional information."
St. Joseph, Missouri

Medifocus Guidebook on Hereditary Hemochromatosis

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