What else is it called?
- bronze diabetes
- bronzed cirrhosis
- familial hemochromatosis
- genetic hemochromatosis
- hereditary haemochromatosis
- iron storage disorder
- pigmentary cirrhosis
- primary hemochromatosis
- Troisier-Hanot-Chauffard syndrome
- Von Recklenhausen-Applebaum disease
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What causes it?
Hereditary haemochromatosis can be causes by mutations (changes) in several different genes. Type 1 haemochromatosis is caused by mutations in the HFE gene and type 2 is caused by mutations in the HJV or HAMP gene. Type 3 is caused by mutations in the TFR2 gene and mutations in the SLC40A1 gene cause type 4 hemochromatosis.
These genes produce proteins that play an important role in regulating the absorption, transport and storage of iron in the body. Changes (mutations) in any of these genes disrupt the control of the intestine’s absorption of iron from food when digested and change the distribution of iron to other parts of the body. Because of this, iron builds up in tissues and organs which can disturb their normal functions.
How common is it?
Type 1 hemochromatosis is one of the most common genetic disorders in the United States which affects approximately 1 million people. This condition is most common in individuals with Northern European descent.
The other types of hemochromatosis are rare and have only been studied in a small number of families world-wide.
What are the signs and symptoms?
Early signs and symptoms of hereditary hemochromatosis may include:
- Fatigue (extreme tiredness)
- Joint pain
- Abdominal pain
- Weight loss
- Loss of sex drive
As the condition worsens individuals may develop:
- Arthritis (joint inflammation)
- Cirrhosis (liver disease)
- Liver cancer
- Heart abnormalities
- Skin discoloration
The severity of symptoms can depend on environmental and lifestyle factors including the amount of iron in the diet, alcohol use and infections.
There are four types of this condition which are grouped according to the age of onset, genetic cause and the mode of inheritance.
Type 1 (the most common form) and type 4 begin in adulthood. Symptoms typically develop between the ages of 40 and 60 in men with type 1 or 4 and after menopause in women.
Symptom of type 2 (also known as juvenile-onset disorder) usually develop in childhood. By the age of 20, the build-up of iron causes a decrease or absence in the secretion of sex hormones. Females with this condition usually start menstruation as normal but it will stop after a few years. Males with this condition may experience delayed puberty. If this condition (type 2) is untreated, the individual may develop a potentially fatal heart disease by the age of 30.
Symptoms of type 3 hemochromatosis usually start before the age of 30.
How is it diagnosed?
This condition can usually be diagnosed with specialised blood tests which will show the amount of iron in your blood, the amount of iron stored in your body and if your DNA carries a faulty gene associated with the disorder. The diagnosis can be confirmed using molecular genetics which will show mutations in one of the genes associated with the disorder. Other tests that may be done include liver function tests, MRI, and a liver biopsy.
Can it be treated?
There is currently no cure for hereditary haemochromatosis however there are treatments that can lower the amount of iron in your body. Lowering the amount of iron in the body can help relieve some of the symptoms as well as the risk of organ damage such as the heart, liver and pancreas.
One of the most common treatments for this condition is phlebotomy which removes blood from the body and is similar to the procedure of giving blood. The blood that is removed includes red blood cells that contain iron. The body will use up more iron to replace them which helps reduce the amount of iron in the body. There are two stages to this treatment:
- Induction- When blood is removed on a weekly basis until the iron levels are normal. This process can sometimes take up to a year or more.
- Maintenance- When blood is removed less frequently (usually 2 to 4 times a year) in order to keep iron levels under control which is usually needed for the rest of the patient’s life.
In a small number of cases phlebotomy is not possible because it is difficult to remove blood regularly (if you have very thin or fragile veins). In these cases, a treatment called chelation therapy may be used which involves taking medicine that removes iron from your blood and releases it into your urine or stool.
Do my family need to be tested?
Hereditary haemochromatosis is an inherited condition. Humans have chromosomes made up of DNA. Genes are pieces of DNA that carry the genetic information. Each chromosome may have several thousand genes. We inherit chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.
The pattern of inheritance of hereditary haemochromatosis types 1, 2 and 3 is autosomal recessive. This means that carriers of the condition do not have the disorder because the other gene of this pair is working normally. Parents of children with hereditary haemochromatosis types 1, 2 and 3 are carriers.
When both parents are carriers, the risk to the baby in each pregnancy is
- 25% chance (1 in 4) of developing the condition
- 50% chance (1 in 2) for the baby to be a carrier of the condition
- 25% chance (1 in 4) for the baby to have two working genes and neither have the condition nor be a carrier
Type 4 haemochromatosis is distinguished by its autosomal dominant inheritance pattern. This means that one copy of the altered gene in each cell is enough to cause the disorder. A person affected by an autosomal dominant disorder such as hereditary haemochromatosis has a 50% chance of passing the mutated gene to each child. There is also a 50% chance that the child will not inherit the mutated gene.
Genetic counselling can be requested to get a full explanation.