Because this disease involves the bone marrow, it is important to monitor the blood and where it is manufactured (marrow) quite regularly. It has been suggested by many hematologists, including those on the SDSF Medical Advisory Board, that patients have a Complete Blood Count (CBC) every 3-4 months and that they have bone marrow biopsies/aspirates performed every 1 to 2 years.

Bone marrow tests indicate how well blood is being produced. A bone marrow biopsy involves removal of a very small piece of bone, usually from the pelvis in the back. It is useful for finding out the number of cells present in the bone marrow. The bone marrow aspirate involves removal of blood producing cells from the marrow. It is helpful in determining the types of cells in the marrow. Both samples are collected with study needles (similar in diameter to an ice pick) inserted through the skin into the bone. It can usually be an outpatient procedure and can be done under local anesthesia, sedating drugs or general anesthesia. The advantages and disadvantages of the different types of anesthesia can be discussed with your doctor before the test. A hematologist and or pathologist should evaluate the biopsy and aspirate to determine how well the bone marrow is producing blood cells and if a bone marrow failure state is present (aplastic anemia, myelodysplasia, leukemia). It is recommended that a bone marrow SDS transplantation specialist be involved in helping decide the most appropriate timing, methods and regimens to use as these differ from those recommended for other types of patients.

A test called cytogenetics can be performed on the bone marrow and this test looks at the chromosomes in the bone marrow. This test is useful on the initial bone marrow to determine if there are any existing abnormalities.