Myelodysplastic syndromes diagnosis

Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic syndromes. The following tests and procedures may be used.

Physical exam and history:  The doctor examines the body to check general signs of health and signs of disease, such as lumps or anything unusual. A history of the patient’s health habits and past illnesses and treatments are also taken.

Complete blood count (CBC) with differential: A sample of blood is drawn and checked for the following:

  • The number of red blood cells and platelets.
  • The number and type of white blood cells.
  • The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.
  • The portion of the blood sample made up of red blood cells.
Cytogenetic analysis: Cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes.
Bone marrow aspiration and biopsy: The removal of bone marrow, blood and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood and bone under a microscope to look for abnormal cells.
Myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow.
  • Refractory anemia: There are too few red blood cells in the blood, and the patient has anemia. The number of white blood cells and platelets is normal.
  • Refractory anemia with ringed sideroblasts: There are too few red blood cells in the blood, and the patient has anemia. The red blood cells have too much iron. The number of white blood cells and platelets is normal.
  • Refractory anemia with excess blasts: There are too few red blood cells in the blood, and the patient has anemia. Five percent to 19 percent of the cells in the bone marrow are blasts, and there are a normal number of blasts found in the blood. There also may be changes to the white blood cells and platelets. Refractory anemia with excess blasts may progress to acute myeloid leukemia.
  • Refractory anemia with excess blasts in transformation: There are too few red blood cells, white blood cells, and platelets in the blood, and the patient has anemia. Twenty percent to 30 percent of the cells in the bone marrow are blasts and more than 5 percent of the cells in the blood are blasts. Refractory anemia with excess blasts in transformation is sometimes called acute myeloid leukemia.
  • Refractory cytopenia with multilineage dysplasia: There are too few of at least two types of blood cells. Less than 5 percent of the cells in the bone marrow are blasts and less than 1 percent of the cells in the blood are blasts. If red blood cells are affected, they may have extra iron. Refractory cytopenia may progress to acute leukemia.
  • Myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality: There are too few red blood cells in the blood and the patient has anemia. Less than 5 percent of the cells in the bone marrow and blood are blasts. There is a specific change in the chromosome.
  • Unclassifiable myelodysplastic syndrome: There are too few of one type of blood cell in the blood. The number of blasts in the bone marrow and blood is normal, and the disease is not one of the other myelodysplastic syndromes.