Haemochromatosis/Hemochromatosis

What is it?

Definition of Haemochromatosis

According to the dictionary it says," Haemochromatosis is a hereditary disorder in which iron salts are deposited in the tissues, leading to liver damage, diabetes mellitus, and bronze discoloration of the skin." Whoever has this disorder, their body both outside and inside are affected. There's no individual part of the body that is ONLY affected by this disorder. It does damage the organs in the body and if left untreated the disorder could get worse and lead to death

What is it?

Haemochromatosis or Hemochromatosis is a when too much iron in the body builds up and cannot be contained. People who have Haemochromatosis, their bodies naturally build up iron on their own. It is genetically passed down and inherited by people who live in the U.S. People with this disease do not seem to notice. But some symptoms that would really affect the body according to an article called Hereditary Hemochromatosis (Iron Overload) it says," sexual dysfunction, heart failure, joint pains, liver cirrhosis, diabetes mellitus, fatigue, and darkening of skin." So, as you can see these are physical and really frightening symptoms.


(Website- http://www.medicinenet.com/iron_overload/article.htm#what_is_hereditary_hemochromatosis

Picture- haemochromatosis.org.au)

What are some of the Symptoms?

Some of the symptoms of Haemochromatosis are...

  • Bones/Joints start to hurt your body and cause pain
  • According to an Article called Haemochromatosis it says that the heart could have a irregular heart-beat which could lead to heart failure.
  • Organs in the body could be built up or filled with too iron.
  • Process of making a child would be affected. According to the same article it says,"Reproductive organ failure, such as erectile dysfunction (impotence), shrinkage of the testicles, and loss of sex drive in men, and absence of the menstrual cycle and early menopause in women ."
  • Skin darkens, turning yellowish
  • Not as energetic
  • liver problems
  • And so many other symptoms, but these are the main symptoms


(Website- http://www.nhlbi.nih.gov/health//dci/Diseases/hemo/hemo_all.html

Image- http://www.mcri.edu.au/media/119786/organs_250x333.jpg)

What is the cause of this disorder?

The cause of this disorder is mostly from inheritance. Most children take in or is inherited with Haemochromatosis, because of the parents genes. This disorder is genetically inherited which means the child can possibly take in this disorder through the parents genes. That would be the cause of Primary Haemochromatosis. The cause for Secondary Haemochromatosis would be receiving "new" blood that has very little or small red blood cells than other normal blood cells. This disorder would be a mutation, the 2 main ones are called ,"C282Y and H63D," according to Haemochromatosis. If a child were to receive the these mutation along with "HFE," which is the gene that helps balance out the iron we absorb, that would cause more absorbing of Iron.

How is this Disorder inherited?

Haemochromatosis is a genetically inherited from parents, whose genes pass down HFE to the child . If the child were to receive 2 copies of this gene and the mutations( you can read what those are in the paragraph above) the absorption of iron would increase. This disorder is sex-linked , both parents are involved (kind of). It really depends on whether or not the parent is carrying that mutation. If both parents are "clean" then their kids won't have it. If both parents carry the mutation than the all the kids would carry half that mutation. If one parent is carrying it and the other isn't then all the kids would get half of it. If both parents carried half instead of a copy than there is a 50% chance of the kids carrying it. There are 4 types of Haemochromatosis with different "characteristics those are Type 1, Type 2( A and B), Type 3, and Type 4," according to Inheritance Combinations for HFE Hemochromatosis (Autosomal Recessive Inheritance). This disorder is Recessive and/or Dominant.


(Website- http://www.toomuchiron.ca/genetic-testing/genetic-inheritance/

Image- https://elcaminogmi.dnadirect.com/img/content/common/autoRecessive.jpg)

How is this Disorder treated?

It is treated by 4 options. They are...


  • "Therapeutic Phlebotomy"- this is the removal of a pint of blood, which is similar to donating blood. You will continue having these removals until your iron levels are normal, even if they are you may continue for life.
  • "Iron Chelation Therapy"- taking medicine to get rid of the iron, this can be done at home or in the doctors office, and "injected or orally( by mouth)."
  • "Dietary Changes"- Your doctor may want you to change your eating patterns to stop you from letting in more and more iron in your body.
  • "Treatment for Complications"- the doctor will give you other treatments to help with heart problem,liver, and etc.


(according to Article- Haemochromatosis and http://www.nhlbi.nih.gov
Image- http://www.cdc.gov/ncbddd/hemochromatosis/training/images/title_treatment-sm.jpg)

How is this Disorder diagnosed?

It is diagnosed by multiple tests. This mostly deals physical exams with the doctor. Have you ever had a physical exam? Of course you have, they check your heart rate and body to see how it's doing. Well, for Haemochromatosis the doctor takes multiple tests. The tests are...


  • "Blood Tests"- for the doctors to figure out how much iron has been taken in your body and blood.
  • "Liver Biopsy"- for doctors to see how much of that iron is your liver and skin.
  • "Magnetic Resonance Imaging"- this just shows images of your organs to help with the Liver Biopsy Test.
  • "Superconducting Quantum Interference Device"- a machine that uses magnets to measure and see the amount of iron.
  • "Genetic Testing"- a test that shows if your genes were mutated or not.


(I got this information from Hemochromatosis from the website http://www.nhlbi.nih.gov

Image- http://www.hemochromatosisdna.com/media/images/hemochromatosis-diagnosis.jpg)

How many and what type of people are likely to have this disorder?

The main group of people who are likely to have this disorder are "Caucasians of Northern European descent." This rarely occurs to Africans , Hispanics, , Asians, or Native Americans. Between males and females, the males are more likely to get this disorder. Females don't seem to have it or notice the symptoms until they have grown to the age of 50, which is after menstruation has stopped( period has stopped). Which is why older people are also more likely to have this disorder than younger people. Alcoholics or people who drink alcohol are also at risk at getting Haemochromatosis. This disorder is mostly found or common in the United States.


(Website- http://www.nhlbi.nih.gov

Article- Hemochromatosis)

Application of research article

I learned a lot of new information about this disorder. At first I didn't even know what Haemochromatosis was or how to pronounce it. After doing this project I learned so much. I now understand how difficult other people lives are and they are having more trouble than we do. We are lucky to be healthy, other people not so much. People who are diagnosed with Haemochromatosis have to deal skin,liver,heart,and blood problems. They have to go through many tests just to know if they have this disorder. And the thing that is so upsetting is that most people don't even know they have this disorder even with the symptoms. So, for all the people out there who have Haemochromatosis, stay strong and I hope you get better.