What Is Hemochromatosis?
Hemochromatosis is a condition caused by the over-absorption of iron from foods that you
consume, leading to an excessive concentration of iron in your blood.
This can cause serious health problems, since your body doesn’t have a way to
get rid of the excess iron. The excess iron also builds up in your:
This buildup of iron causes damage.
What Are the Symptoms of Hemochromatosis?
Many people with hemochromatosis don’t have noticeable symptoms.
When symptoms do exist, they may vary from person-to-person.
Some common symptoms include:
- a low sex drive
- abdominal pain
- low energy
- joint pain
What Causes Hemochromatosis?
The two forms of hemochromatosis are primary and secondary.
Primary hemochromatosis is an inherited genetic disorder that
causes you to absorb too much iron from food.
Most types of primary hemochromatosis are caused by mutations.
The HFE gene, or hemochromatosis gene, controls how much iron you absorb from
food. There are two common mutations of this gene that cause hemochromatosis.
They are C282Y and H63D. A person must inherit a copy of the defective gene
from each parent to develop this condition. A person who inherits only one copy
of a mutated gene is considered a carrier of the condition, but they may never
According to the National
Heart, Lung, and Blood Institute (NHLBI), men with the inherited form of
this disease typically develop symptoms between the ages of 40 and 60 years
old. Women typically develop them after menopause.
The two special subtypes of primary hemochromatosis are juvenile
hemochromatosis causes symptoms similar to those of primary
hemochromatosis, but it typically affects people between the ages of 15 and 30.
Additionally, this form is caused by a mutation in the hemojuvelin gene, not
the HFE gene.
hemochromatosis causes a severe buildup of iron in an infant’s
liver, sometimes resulting in death.
Secondary hemochromatosis occurs when a buildup of iron is
brought on by other medical conditions, such as:
- anemia, which occurs when your body doesn’t make
enough red blood cells
- chronic liver disease, which often results from
hepatitis C infection or alcoholism
- frequent blood transfusions
- kidney dialysis
Risk Factors for Hemochromatosis
The following people are at increased risk for developing primary
- People who have a close relative with the
disorder, such as a parent, sibling, or grandparent, are at higher risk of
inheriting the gene mutation.
- People of European descent are at increased
- Women who are postmenopausal are at increased
risk. Menstrual bleeding lowers the amount of iron in your blood, which can
delay the onset of symptoms in people at risk of the disease
- While both men and women may inherit the
disorder, the Centers
for Disease Control and Prevention (CDC) reports that men are more likely
to be diagnosed with the effects of the disease.
Not all people who inherit the gene mutation for hemochromatosis
develop the disease. Many people are carriers, which means they have the gene
but no symptoms. People at the highest risk of developing symptoms are those
with two mutated copies of the HFE gene, one from each parent. However, not all
of those people develop symptoms.
Risk factors for secondary hemochromatosis include:
- a family history of diabetes, heart disease, or liver
- taking dietary supplements with iron or vitamin
C, which can increase the amount of iron that’s absorbed by your body
The symptoms of hemochromatosis are similar to those of many other
conditions. This can make it difficult to diagnose. Several tests may be
necessary to confirm a diagnosis of hemochromatosis.
A blood test can be used check your iron levels. This is assessed
using tests for serum iron levels and serum
ferritin levels. An additional blood test called a serum transferrin saturation test may
be used to measure the amount of iron bound to the protein transferrin, which
carries iron in your blood. A test result of 45 percent or more is considered
If your doctor thinks you may have hemochromatosis, DNA testing may
be recommended. You’ll be checked for mutations in your HFE and hemojuvelin
Your doctor may also do a liver biopsy. This removes
a piece of tissue from your liver for pathology lab testing. Your doctor will
look for the presence of iron or liver damage. The liver is the main storage
site for iron. It’s usually one of the first organs damaged by iron buildup.
How Is Hemochromatosis Treated?
The treatment of choice for hemochromatosis is phlebotomy. Phlebotomy is the removal
of blood from your body. You may need phlebotomy on a regular basis to remove
excess iron. When you first begin the treatments, you’ll have them up to twice
a week. After the initial treatments, you may come back four to six times per
What If I Don’t Want Phlebotomy?
Most people with hemochromatosis find that phlebotomy is an
effective way to relieve their symptoms. In general, it causes little pain and
has few side effects. However, some people are uncomfortable with the
procedure. Reasons people refuse phlebotomy include:
- fatigue after treatment
- a fear of needles
- pain during the process
- a concern that too much bleeding could cause
- discomfort with having blood disposed of or used
Phlebotomy is the simplest and cheapest form of therapy for
hemochromatosis. If you have problems with the process, talk to your doctor
about what you can do to make it easier. Simple things like drinking a lot of
fluids the day before each procedure may make you more comfortable.
If phlebotomy is an unacceptable option, for any reason, there
are other treatments. However, the medication that’s used to treat
hemochromatosis is more expensive. It can also have side effects of its own.
These include pain at the injection site and flu-like symptoms.
For people who refuse phlebotomy, a chelating drug may be used.
This type of drug can be injected by your doctor or taken by pill. It helps your
body expel excess iron in your urine and stool. This treatment is also used for
people with heart complications and other contraindications for phlebotomy.
What Complications Are Associated with
Most complications arise in the organs storing excess iron. This
damage occurs over time. It tends to affect your:
The following are examples of what kind of damage can occur:
- Liver damage can cause cirrhosis, which is permanent
scarring of your liver.
- Pancreatic damage can cause changes in your insulin
levels, leading to diabetes.
- Circulation problems may lead to heart failure.
- Iron buildup in your heart can lead to irregular
- Excess iron can cause your skin to turn bronze
Your risk of complications can be reduced if treatment is started
as soon as you develop hemochromatosis symptoms. If you have hemochromatosis,
you should avoid:
- iron supplements
- vitamin C supplements, which increase iron