One of the most common genetic disorders in the United States, hemochromatosis is the most common type of iron overload disease.
In addition to primary hemochromatosis – an inherited disease also known as hereditary or genetic hemochromatosis – and secondary hemochromatosis, there are two other forms of the disease: juvenile hemochromatosis and neonatal hemochromatosis.
Hemochromatosis causes the body to absorb and store too much iron. Because the body has no system through which to rid itself of excess iron, it gets stored in bodily tissues.
The surplus iron accumulates in the organs causing them damage. If left untreated, hemochromatosis can cause heart, liver, and pancreatic failure.
Hemochromatosis Signs, Symptoms, and Complications
The genetic defect that causes hereditary hemochromatosis is present at birth, but many people don’t experience signs and symptoms until midlife.
Even in advanced cases, there are a great many individuals who don’t experience symptoms. It is less common for women to experience symptoms since they excrete iron with menstrual cycles.
Arthropathy (joint disease) affects between 25 and 50% of hemochromatosis sufferers. Joint pain is the most common complaint of people with hemochromatosis.
Sometimes hereditary hemochromatosis is difficult to diagnose because in the early stages, signs and symptoms tend to be similar to those of many other common conditions:
- Abdominal pain
- Abnormal liver function tests
- Abnormal menstruation
- Chronic fatigue
- High blood sugar levels
- Lack of energy
- Loss of sex drive or impotence
- Low thyroid function
In the advanced stages:
- Adrenal gland damage
- Congestive heart failure
- Early menopause
- Enlarged liver
- Heart arrhythmias
- Liver cancer
- Pancreatic damage
- Pigment changes (bronze or gray skin discoloration)
- Thyroid deficiency
Complications from neonatal hemochromatosis are severe. The iron accumulates in the baby’s liver so quickly that the newborn may be stillborn or die just days following birth.
Symptoms of juvenile hemochromatosis usually begin at 15-30 years of age, often leading to severe iron overload, and heart and liver disease.
Common complications include diabetes and sexual development issues, which may result in impotence, a lack of menstruation, and infertility.
Other disease complications – irregular heartbeat and heart failure – may be fatal if left untreated.
Who Gets Hemochromatosis?
Healthy people normally absorb approximately 10% of the iron contained in their food; people with hemochromatosis absorb up to 30%, triple the normal dietary requirement. Eventually, they absorb and retain from five to twenty times more iron than they need.
Over time, this stockpiled excess iron can severely damage many organs, leading to organ failure as well as to chronic diseases such as cirrhosis and diabetes.
Causes of Hemochromatosis
- Hereditary hemochromatosis is linked to a defect in the iron-regulating gene called HFE. This gene has two common mutations (C282Y and H63D). In the United States, most people with hemochromatosis have inherited two copies of the gene mutation known as C282Y — one from each parent.
- Secondary hemochromatosis is caused by alcoholism, anemia, and other disorders.
- While juvenile hemochromatosis is not caused by the HFE defect, it is related to a mutation in either the gene hemojuvelin or hepcidin, which are both involved in iron metabolism.
Hemochromatosis Risk Factors
- Ethnicity: Caucasians of Northern European descent are more prone to hereditary hemochromatosis than African-Americans, American Indians, Asian-Americans, and Hispanics/Latinos.
- Family history: Those with a close relative, parent, or sibling who have it are more likely to develop the disorder; because it is a recessive disorder, 2 abnormal mutations are required for someone to develop the disease; however, single mutations can be passed on to children.
- Gender: Men are five times as likely as women to develop the condition, and more likely to exhibit signs and symptoms at an early age (between 30 and 50); women lose iron with menstruation and pregnancy, so they store less iron than men…after menopause or a hysterectomy, the risk for women increases.
Having inherited one C282Y gene, approximately one in ten Caucasians is a hemochromatosis carrier. They are unlikely to develop the disease, but may absorb more iron than usual.
If both parents are carriers, there’s a twenty-five percent 25% chance of inheriting two C282Y genes, which means a high likelihood of developing the disorder.
The initial symptoms can be vague, and similar to those of many other illnesses. For this reason, physicians sometimes tend to focus on the conditions caused by hemochromatosis rather than on the underlying iron overload. Testing is, therefore, strongly recommended.
Iron overload can be detected using two blood tests:
- Serum transferrin saturation: measures the amount of iron bound to transferrin, a protein that carries iron in the blood; typically in men this is > 45% and in women > 55%
- Serum ferritin: measures the amount of iron stored in the body; a number of conditions can cause elevated ferritin, so both tests are needed – sometimes performed more than once – to confirm a hereditary hemochromatosis diagnosis; ferritin levels >300 ng/mL in men and postmenopausal woman and > 200 ng/mL in premenopausal women are typically present in people with hemochromatosis
If there is evidence of liver damage, a transjugular liver biopsy may be required to assess the degree of liver damage.
Genetic testing is also available to assist in diagnosing hereditary hemochromatosis. If you have a parent, child, or sibling with the disease, testing can determine whether or not you’re a carrier by testing for the abnormal mutations in the HFE gene.
Hemochromatosis Prevention and Treatment
Hereditary hemochromatosis cannot be prevented, but the symptoms and complications can sometimes be minimized by certain lifestyle changes:
- Avoid iron supplements and iron-containing multivitamins
- Avoid vitamin C supplements which increase iron absorption
- Avoid alcohol; combined with iron, it causes even more liver damage than alcohol alone
- Avoid raw shellfish and oysters; hereditary hemochromatosis sufferers are susceptible to infections caused by specific bacteria found in raw shellfish
Treatment for hemochromatosis is effective, inexpensive, simple, and safe. Step one is removing excess iron from the body. This process, phlebotomy, draws blood by the same method used with blood bank donors.
Once iron levels have been brought down to normal, a pint of blood will be drawn once or twice a week. The exact amount depends on age, overall health, and severity of the iron overload.
This process will continue for several months to a year in an attempt to decrease and maintain iron levels within normal range.
The final step – to continue throughout the patient’s life – involves having a pint of blood drawn every two to four months, sometimes more often. Drawing one pint of blood takes between 10 and 30 minutes.
A phlebotomy can slow the progression of hemochromatosis and – in some cases – prevent clinical disease altogether.
Hereditary hemochromatosis cannot be prevented. Left untreated, it is a potentially fatal disease with a host of unpleasant complications.
The prognosis for people with complications from hemochromatosis depends on the degree of organ damage. Treating hemochromatosis can halt the progression of liver disease if caught in the early stages.
But if cirrhosis of the liver or liver scarring is evident, the patient will be at risk for developing liver cancer even if their body’s iron content is brought down to normal levels through phlebotomy.
However, with early treatment, total organ destruction can be prevented. This is why screening for those at risk for the disease is strongly recommended.
Treatment won’t cure hemochromatosis (iron overload) complications once they’ve set in, but it can bring improvement in most cases. Arthritis is the exception: it won’t improve even after iron levels are reduced.
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