How Is Bone Marrow Failure Diagnosed?
Bone marrow failure is rare, so it is important to be cared for a center with extensive experience caring for bone marrow failure patients and leading research efforts to better understand these conditions and improve treatments.
For patients diagnosed and treated as children, our close partnership with Dana-Farber/Boston Children's Cancer and Blood Disorder Center supports a smooth transition of care to our adult program as you grow. Dana-Farber Cancer Institute is one of only a few centers in the country to provide this continuum of care from childhood to adulthood for bone marrow failure patients.
It is important to get an early and accurate diagnosis of bone marrow failure so you and your care team can develop an effective treatment plan. Our bone marrow failure specialists work closely with hematopathologists (pathologists who specialize in blood disorders) to determine the appropriate testing for an accurate diagnosis. These tests may include:
Complete blood count (CBC) with differential: This is a procedure in which 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
Immunologic testing: This is an assessment of a patient's immune system by analyzing the number and function of the patient's immune cells.
Bone marrow biopsy: If needed, this procedure is done in the office or the hospital room. A clinician uses a local anesthetic to numb the posterior iliac crest (back of the hip). A needle is used to obtain a liquid aspirate sample and a small core biopsy sample of the bone marrow. The samples obtained are analyzed by specialized hematopathologists to confirm the diagnosis and conduct various tests to characterize your disease.
Telomere length testing: We test a blood sample to assess telomere length in different blood cells to identify patients with a telomere biology disorder.
Germline testing: We evaluate your blood or skin sample for known or suspected inherited genetic mutations. We may also recommend that your family members have genetic testing to assess their risk of having the same genetic mutation.
Next-generation sequencing through the Rapid Heme Panel to identify key mutations that are important for developing timely treatment plans.