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Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia.
MDS develops when a cell with a mutation replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells. The mutation may result from a genetic predisposition, or from injury to the DNA caused by an exposure such as chemotherapy or radiation. In many people with MDS there is no obvious exposure or cause.
Standard treatments for people with MDS and decreased blood counts are constantly changing. The main components of care include transfusions of the types of cells that are deficient and treatment of infections. A stem cell transplant may cure the disease, but it is only indicated in selected cases.
Source: GARD Last updated on 05-01-20
The development of MDS involves a series of genetic changes in a hematopoietic stem cell. These changes alter normal cell growth and differentiation (development into different types of blood cells). This results in an accumulation of abnormal, immature cells in the bone marrow and the impaired creation of new blood cells. Genetic changes leading to the development of MDS may result from an inherited predisposition, or from damage to a cell's DNA ( a somatic mutation) caused by exposure to chemotherapy, radiation, viral infection, or certain chemicals (e.g., benzene). It is classified as "secondary" MDS when it is due to aggressive treatment of other cancers. It also occurs in heavily pre-treated people with autologous bone marrow transplants.
Approximately 80% of people with MDS do not have an obvious exposure or cause for MDS. In these cases, the disorder is classified as "primary" or "idiopathic" MDS.
Last updated on 05-01-20
Deletions of the long arm of chromosome 20, often written as del(20q), occur in less than 5 percent of cases of myelodysplastic syndrome (MDS). Further studies are needed to determine exactly which genes on chromosome 20 are involved in the development of MDS. Chromosome 20 likely contains between 700 and 800 genes, which perform a variety of different roles in the body. Studies suggest that some of the genes may play critical roles in controlling the growth and division of cells.
A map of the genes on chromosome 20q12 can be viewed on the National Center for Biotechnology Information's Web site by clicking here. Alternatively, a more exhaustive list of the genes on chromosome 20q12 can also be viewed on this site by clicking here. Clicking on the name of the gene will lead to a summary of the gene, including any disorders with which it is known to be associated. Unfortunately, there is not currently a "patient-friendly" resource that lists and/or explains all of the genes on chromosome 20q12. A meeting with a genetics professional may be able to offer additional information about these genes and their functions.
Last updated on 05-01-20
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