Iron overload disorders are a group of medical conditions which cause excess iron to be stored in the body. They involve acquired hemochromatosis, a neurological disorder in which so much iron is consumed from foods and beverages by the body of a person.
Excess iron can not be excreted by the body, so it retains it in some organs , especially the liver, heart, and pancreas, which can cause organ damage. Pancreatic damage can cause diabetes. Excess iron will make the skin a bronze color without treatment, too.
With treatment, there is a positive future for those with this disorder. Treatments can involve taking blood to decrease the levels of iron in the body and making dietary changes to decrease the consumption of iron.
We look at the forms, causes, signs, and treatment of iron overload disorder in this article.
What are iron overload disorders?
In a healthy body, the intestines limit the absorption of this mineral from food and drink if the reserves of iron are adequate to keep its levels from increasing too high.
People with iron overload conditions consume more iron from diet or supplements than normal. The body is unable to remove the extra iron efficiently enough, so it begins to build up. In organ tissue, mainly in the liver, as well as the heart and the pancreas, the body stores it.
Several forms of iron overload disease are present. A main disorder that has a hereditary aspect is hereditary hemochromatosis. People may also have secondary hemochromatosis, which develops as a consequence of another condition or illness.
There are many forms of condition of iron overload, each with distinct causes:
Primary hemochromatosis: A genetic mutation
One of the most prevalent genetic disorders in the United States is hereditary hemochromatosis, which individuals can also refer to as primary or classic hemochromatosis. Not everybody with the disease exhibits signs.
This condition affects white individuals mainly. In the United States and Australia, approximately 1 in 200 Caucasian people have inherited hemochromatosis, according to a 2018 study, and 10-14 percent of both of these groups bear genetic mutations.
In a gene called HFE, inherited hemochromatosis arises because of a mutation. The amount of iron the body consumes is regulated by this gene. C282Y and H63D are two probable HFE gene mutations.
In the U.S., two copies of C282Y have been acquired by most people with acquired hemochromatosis, one from the mother and the other from the father. It is not clear that a person who inherits only one defective gene will acquire iron overload syndrome, but they will be a carrier and will possibly consume more iron than average.
If both parents are carriers, there is a 1 in 4 risk of having two defective genes in their infant, one from each parent. However, signs are never encountered by those persons with two versions of the C282Y mutation.
One C282Y mutation and one H63D mutation are inherited from those individuals. A limited percentage of these individuals can experience signs of hemochromatosis. It is rare to inherit two copies of H63D, and study has not yet established whether the likelihood of hemochromatosis could be elevated by this.
Secondary hemochromatosis: a condition’s consequence
Secondary hemochromatosis can result from certain forms of anemia, such as thalassemia, or chronic liver disease, such as chronic hepatitis C infection or alcohol-related liver disease, according to the National Heart , Lung, and Blood Institute (NHLBI).
Secondary hemochromatosis can also be caused by blood transfusions, taking oral iron supplements or receiving iron injections or long-term kidney dialysis.
An hereditary disease that arises from defects in a gene called HJV is juvenile hemochromatosis. Earlier in life, iron builds up and signs occur between 15 and 30 years of age.
Diabetes and sexual development disorders are among the signs. It can be deadly without treatment.
Iron will grow in the liver so quickly in newborns with neonatal hemochromatosis that the baby is either stillborn or does not survive long after birth. The origin is not genetic, evidence shows. That can arise because the immune system of the mother generates antibodies that destroy the fetal liver.
The following risk factors can increase the chance that an individual will have hemochromatosis:
- Genetic factors: Having two copies of a faulty HFE gene is the main risk factor for hereditary hemochromatosis. The person inherits one copy of the mutated HFE gene from each parent. H refers to high, and FE means iron.
- Family history: A person with a parent, child, brother, or sister with hemochromatosis is more likely to have it.
- Ethnicity: According to the NHLBI, Caucasian people of Northern European descent have a higher risk of having the HFE gene mutation and of developing hemochromatosis. They note that it is less common in people of African American, Hispanic, Asian, and American Indian descent.
- Gender: Iron overload affects both males and females, although it may have a less significant effect on females. The reason for this is that most females regularly lose blood during menstruation, and blood loss reduces iron levels. Males may develop symptoms at the age of about 40–60 years, and females may have symptoms after menopause.
The signs and symptoms of iron overload disorder are mostly mild, and people with iron overload have no symptoms in 3 out of 4 cases in a 2019 source report.
Signs do not usually occur until middle age, or after menopause in females. People with hemochromatosis are less likely to show symptoms today, so diagnosis appears to start earlier than in the past.
The key signs, if the disease progresses, include:
- tiredness or fatigue
- weight loss
- abdominal pain
- high blood sugar levels
- hyperpigmentation, or the skin turning a bronze color
- a loss of libido, or sex drive
- in males, reduction in the size of the testicles
- in females, reduced or absent menstruation
In time, the following conditions may develop:
- liver disease or cirrhosis (permanent scarring) of the liver
- enlargement of the liver
- heart disease
The signs of hemochromatosis can be hard to diagnose and they can interfere with the signs of other diseases. A doctor may decide to refer the person to a hepatologist (a liver specialist) or a cardiologist (a heart specialist).
Doctors can help detect hemochromatosis for certain studies. Blood checks, prostate examinations, MRI scans, and genetic testing are among them.
Well before signs occur, two distinct forms of blood test may identify iron deficiency.
The serum transferrin saturation test tests the amount of transferrin-bound iron, a protein in the blood that holds iron. Values of over 45 percent saturation are too high.
The examination for serum ferritin tests the amount of iron that has been retained by the body. Knowing these levels lets a doctor identify a person through recovery and monitor them.
Both blood samples are to be done by physicians, and they will need to check them for improved precision, since other factors may also raise the amount of ferritin.
These are not routine blood tests, and doctors usually only perform them if someone has a parent, child, or sibling with hemochromatosis.
However, whether they have any of the following signs , symptoms, and disorders, individuals can also undergo these tests:
- elevated liver enzymes
- erectile dysfunction
- extreme tiredness
- heart disease
- joint disease
The results of these blood tests which indicate iron overload in persons who drink large levels of alcohol or those who have had a number of blood transfusions or hepatitis C.
A diagnosis of inherited hemochromatosis may help validate these specific tests:
- genetic testing can determine whether the person carries the HFE gene.
- MRI scans to check iron levels in the liver
- a liver biopsy can determine iron levels in the liver and reveal any cirrhosis or other damage, but this test is less common nowadays
They usually have a normal life expectancy if a person gets early diagnosis and treatment. However, they can get daily blood checks, and rehabilitation usually carries on for life.
For iron overload conditions, there are many treatments:
The normal procedure for extracting iron-rich blood from the body is phlebotomy, or venesection.
Typically, before levels return to normal, this would continue to take place frequently. The patient would need to continue the medication as iron levels build up again.
How much blood the doctor takes, and how often, depends on:
- the person’s age and sex
- the person’s overall health
- the severity of the iron overload
In the early stages of treatment, doctors may remove 1 pint of blood once or twice a week. They can withdraw blood every 2-4 months after this.
Cirrhosis can not be cured by phlebotomy, but symptoms, such as nausea, stomach pain and weakness, can improve. Heart health and joint pain can also be improved.
To remove excess iron from the body, iron chelation therapy involves taking oral or injected medicine. Before the body excretes it, drugs may contain a drug that binds the extra iron.
Although this is not recommended by physicians as a first-line therapy for hemochromatosis, some people might find it acceptable.
Dietary modifications that restrict the consumption of iron can help minimize symptoms. Dietary modifications may include:
- avoiding supplements that contain iron
- avoiding supplements that contain vitamin C, as this vitamin increases iron absorption
- reducing iron-rich and iron-fortified foods
- avoiding uncooked fish and shellfish
- limiting alcohol intake, as this can damage the liver
Without treatment, an accumulation of iron can lead to health complications, such as:
- a higher chance of liver cancer relating to cirrhosis or hemochromatosis
- diabetes and associated complications
- congestive heart failure if too much iron builds up in the heart and the body cannot circulate enough blood
- irregular heart rhythms, or arrhythmias, leading to chest pain, palpitations, and dizziness
- endocrine problems, such as hypothyroidism or hypogonadism
- arthritis, osteoarthritis, or osteoporosis
- bronze or gray skin due to the deposits of iron in skin cells
Depression, gallbladder disorder, and certain cancers may have other complications.
Some autopsies also indicated that patients with neurodegenerative conditions, such as Alzheimer’s disease , multiple sclerosis, and epilepsy, also difficulties with iron levels in the brain, according to the Iron Disorders Institute.
Iron overload disorders include excessive amounts of iron built up in the body, such as primary hemochromatosis. The condition can cause severe problems without medication, and it can be life threatening.
Canadian researchers concluded in 2007 that hemochromatosis is a ‘normal and relatively easy to treat’ genetic disorder.
People may have a normal life expectancy with care, notably with early diagnosis and successful intervention.