The most common cause is an inherited genetic change, butblood transfusionsand liver disease can also lead to hemochromatosis.
Symptoms can be subtle, including fatigue, joint pain, and rusty or greyish appearing skin color.
Untreated hemochromatosis can cause medical complications, such as liver damage or heart failure.
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This article describes the types, causes, effects, and treatment of hemochromatosis.
Types and Causes of Hemochromatosis
Hemochromatosis is generally categorized as primary or secondary.
Primary hemochromatosis is inherited and because of gene alterations that affect the way the body absorbs iron.
Secondary hemochromatosis occurs due to underlying diseases that cause excessive iron buildup.
The most common mutations that can cause hemochromatosis areC282YandH63D, which are both located on the HFE gene.
You should not have symptoms if you inherit only one copy of the mutation.
Symptoms for this pop in of hemochromatosis usually begin during your 40s or 50s.
Juvenile Hemochromatosis
Juvenile hemochromatosis starts to have effects before age 30.
It can cause delayed puberty, heart disease, diabetes, joint pain, and liver disease.
Neonatal Hemochromatosis
Neonatal hemochromatosis is a rare disorder that affects newborns.
It is sparked by damage to the infants liver that might result from the birthing parents immune system.
The liver damage causes excess iron accumulation in the babys body.
You could also be at risk of developing secondary hemochromatosis if you have an underlying cause of iron overload.
In this situation,you might want to get testedto see if you have inherited the mutation.
Secondary hemochromatosis risk factors include blood disorders treated with repeated blood transfusions, such assickle cell diseaseorthalassemia.
Signs and symptoms of hemochromatosis include:
These signs and symptoms may worsen gradually with hemochromatosis.
Its important to get medical attention for these symptoms, whether you are at risk of hemochromatosis or not.
Check Your Family History
Your family history is an important aspect of getting diagnosed with hereditary hemochromatosis.
You might want to get tested to know the risk to your offspring.
Some signs of hemochromatosis can be associated with the complications.
This tissue can be examined and may detect abnormal iron accumulation in the liver.
With secondary hemochromatosis, you will need treatment to remove excess iron.
You may need management of your underlying cause and ongoing surveillance to identify any recurrence of iron overload.
The treatment of most types of hemochromatosis typically involves therapeutic phlebotomy, which involves removing blood.
This therapy usually lowers iron stores in the body, but the effect is temporary.
Red blood cells contain the iron-containing protein hemoglobin, which carries oxygen and carbon dioxide.
Your body will use excess iron stores to make new red blood cells.
Medications used for chelation include deferoxamine, deferasirox, or deferiprone.
after you snag reached a safe level, you will be ready for maintenance treatment.
Complications of Hemochromatosis
The complications of hemochromatosis are associated with organ damage and can develop over time.
There are hereditary forms of this condition.
A rare infantile form is due to maternal antibodies (immune proteins) that damage the newborn liver.
Secondary hemochromatosis is iron buildup due to medical risks, which include repeated blood transfusions or liver disease.
Complications of untreated hemochromatosis include damage to the liver, heart, thyroid gland, joints, and pancreas.
Management of hereditary hemochromatosis requires lifetime surveillance and therapy.
Management of secondary hemochromatosis involves treatment of the underlying condition and ongoing monitoring and therapy.
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