The need for regular blood transfusions, as well as underlying processes in MDS, can result in iron overload. If left untreated, excess iron can cause widespread damage to organs throughout the body.

Myelodysplastic syndromes (MDS) are rare bone marrow disorders that impair how well your body creates new blood cells.

A handful of MDS subtypes exist, defined by the type of blood cells affected and to what extent. But all forms of MDS occur when the bone marrow produces too many dysfunctional or immature blood cells and not enough healthy cells, including:

  • red blood cells, which carry oxygen throughout the body
  • white blood cells, which help prevent infections
  • platelets, which help blood clot

Classified as cancers, MDS were once referred to as pre-leukemia, or “smoldering leukemia,” due to the 1 in 3 chance that they would develop into acute myeloid leukemia (AML).

As with other conditions that affect the blood, MDS typically require blood transfusions as a part of treatment. Frequent blood transfusions may come with risks associated with hemochromatosis, also known as iron overload.

The relationship between MDS and iron overload has to do with how MDS affect your blood cells.

MDS prevent your bone marrow from making the necessary level of red blood cells, which help transport oxygen throughout the body. Red blood cells contain hemoglobin, which consists of iron compounds that bind with oxygen in order to transport it.

Anemia is a condition that occurs if your blood doesn’t have enough red blood cells to supply your organs with the amount of oxygen they need to function properly.

One of the primary treatments to combat anemia in people with MDS is blood transfusion. During a transfusion, you’re given blood cells from a healthy donor through an IV. You may need frequent transfusions to help keep your blood cell level in an optimal range.

Over time, these transfusions may supply your body with more iron than it needs, contributing to iron overload.

The number of blood transfusions that may lead to iron overload can vary from person to person. Some people may develop iron overload after 10 to 15 transfusions, while others may not develop it for many years, after many transfusions. It’s important to talk with your doctor about being tested for iron overload regularly.

While transfusions are considered the most influential factor in iron overload, underlying processes in MDS can also contribute to the buildup of iron.

Suppressed red blood cell production, for example, can lower your body’s production of peptides that regulate iron uptake and storage within cells. Without adequate peptide levels, your body absorbs more iron than it should from the intestines.

Genetics may also play a role for some people. According to a 2018 review, genetic mutations seen in specific subtypes of MDS may contribute to iron buildup in the body.

These underlying processes can set the stage for iron overload even before you start having transfusions.

Certain factors may also increase your chances of developing iron overload in MDS, including:

  • living with C282Y and H63D mutations in the HFE gene
  • being of Northern European ancestry
  • living with chronic liver diseases, such as hepatitis C
  • regular heavy alcohol consumption
  • being over 40 years of age

Iron overload doesn’t always cause symptoms. If symptoms do become noticeable, they’re usually related to specific organ involvement.

Excess iron deposits frequently affect the liver, heart, and endocrine organs, but multiple organs can be affected simultaneously.

Symptoms may include:

  • abdominal pain
  • fatigue
  • joint pain
  • skin color changes
  • sexual dysfunction and loss of libido
  • hair loss
  • irregular heart rhythm
  • elevated blood glucose levels
  • liver enlargement
  • depression

Your doctor can diagnose iron overload with laboratory tests and diagnostic imaging.

Initially, your doctor may run a serum ferritin test using a sample of your blood. Ferritin is a protein involved with iron regulation in the body. It’s used as an indicator of your iron levels. High ferritin levels could indicate iron overload.

More than just blood work may be necessary to verify iron overload and its current effects in your body, however. Tissue samples through biopsy and magnetic resonance imaging (MRI) scans can help your doctor verify iron overload and any damage to specific organs.

Iron overload is a potentially serious medical condition. If left untreated, it can lead to organ failure and can promote the progression of other disease processes in the body.

Long-term complications of iron overload in MDS include:

  • cirrhosis, or scarring of the liver
  • heart and liver failure
  • liver cancer
  • diabetes
  • arthritis
  • thyroid dysfunction
  • accelerated neurodegenerative conditions, such as Alzheimer’s disease

For people living with MDS, iron overload is associated with decreased survival rates. Its presence indicates MDS are advanced, and it can create new medical challenges, such as heart or liver damage, that may directly impact survival.

Iron overload can be managed through close monitoring of iron levels, iron chelation therapy, and the use of hematopoietic growth factors.

You may also want to talk with a doctor about dietary changes that may help, such as:

  • avoiding supplements and multivitamins that contain iron
  • avoiding supplements that contain vitamin C, which can increase the absorption of iron in your body
  • limiting or avoiding alcohol

Iron chelation therapy

Iron chelation therapy involves taking medications that bind to excess iron and remove it from the body through urine or stool.

Iron chelators approved for use in the United States include:

  • deferoxamine
  • deferasirox

A third iron chelator, deferiprone, is currently in use throughout Canada, Europe, and Asia.

Hematopoietic growth factors

For some people living with MDS, the use of hematopoietic growth factors may offer a way to reduce the number of blood transfusions needed to treat anemia.

Fewer blood transfusions can help reduce the amount of excess iron in the body.

Hematopoietic growth factors are proteins in the body that stimulate blood cell production in the bone marrow. Doctors use synthetic versions of these proteins to encourage natural red blood cell production and reduce the need for transfusions.

Common hematopoietic growth factors used include recombinant human erythropoietin (EPO) and darbepoetin.

People with myelodysplastic syndromes (MDS) may experience iron overload due to underlying disease processes and the need for frequent blood transfusions.

Your doctor will monitor your iron levels during MDS treatment. If they become a concern, you may receive iron chelation therapy or bone marrow-stimulating drugs to help lower your iron levels.