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Genetic and Rare Diseases Information Center (GARD)

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Myelodysplastic syndromes

Other Names for this Disease
  • MDS
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What are myelodysplastic syndromes?

What causes myelodysplastic syndromes?

What are myelodysplastic syndromes?

Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches.[1][2] In some cases, MDS may progress to bone marrow failure or an acute leukemia. The exact cause of MDS is unknown. It sometimes runs in families, but no disease-causing gene has been identified. Treatment depends on the affected individual's age, general health, and type of MDS and may include red cell and/or platelet transfusions and antibiotics.[1]
Last updated: 3/23/2012

What causes myelodysplastic syndromes?

It is known that the abnormal development of blood cells associated with myelodysplastic syndromes (MDS) develops as the result of a series of somatic genetic changes - mutations that are not inherited that arise after conception - in cells that later become blood cells. These changes alter normal cell growth and differentiation, resulting in the accumulation of abnormal, immature cells in the bone marrow, thus leading to the signs and symptoms of MDS. Some recurring chromosome abnormalities and translocations have been identified and can affect treatment planning and prognosis.[3]

Many times the underlying cause of MDS is unknown (idiopathic MDS). Sometimes, MDS can develop after chemotherapy and radiation treatment for cancer or autoimmune diseases (secondary MDS). There are also some possible risk factors for developing the condition.[1] Having a risk factor does not mean that an individual will get MDS; not having risk factors doesn’t mean that an individual will not get MDS.[2] Possible risk factors for MDS may include past treatment with chemotherapy or radiation therapy; exposure to some chemicals (pesticides and benzene); exposure to heavy metals (such as mercury or lead); cigarette smoking; viral infections; being over 60 years of age; and being male or white.[1][2] The majority of individuals developing MDS have no obvious connection with environmental hazards. MDS also sometimes runs in families, which suggests a potential genetic link with the disease; however, no disease causing gene has been identified.[1]
Last updated: 3/23/2012

  1. Myelodysplastic Syndromes. NORD. March 15, 2012; Accessed 3/23/2012.
  2. General Information About Myelodysplastic Syndromes. NCI. March 16, 2012; Accessed 3/23/2012.
  3. Yanming Zhang, Michelle M Le Beau. Cytogenetics and molecular genetics of myelodysplastic syndromes. UpToDate. UpToDate; October 11, 2011;