Myelodysplastic syndromes (MDS)

A full physical exam gives your haematologist information about your general health and also to check for any signs of disease.

A FBC counts the number of red blood cells, platelets and white blood cells. If anything abnormal is seen on the blood count, the laboratory will then examine the blood cells under the microscope. This is called a blood film analysis.

A bone marrow test is usually needed to confirm the diagnosis of MDS. Bone marrow tests involve taking a tiny sample of your bone or bone marrow and looking at it under a microscope. The sample is taken from the inside of the bone, usually your hipbone. If a sample of bone marrow cells is taken, it is called an aspirate. If a tiny piece of bone or solid marrow is taken, it is a trephine biopsy. Both can be done at the same time.

The bone marrow sample is examined under a microscope to look for changes seen in MDS. The bone marrow sample can also be used for chromosome studies called cytogenetics. 

Marrow tests may be repeated later to check how well you are responding to treatment or to see how the disease is behaving.

Read more about bone marrow biopsies.

This looks at number and shape of your chromosomes to see if there is anything unusual about them.

This looks for changes in selected genes in your chromosomes.

These look at the genetic profile of your cells.

How is the MDS is affecting your blood, bone marrow and chromosomes/genes? 

For example, in some types of MDS your blood will have a high number of blast cells – these are white blood cells that haven’t developed properly. In other types, your blood cells or chromosomes may be abnormal in some way.

High-risk or low-risk MDS refers to the chance of developing a blood cancer called acute myeloid leukaemia (AML) and how long someone might be expected to live.