If you have been diagnosed with a bone marrow failure disorder, the expert team at Dana-Farber Brigham Cancer Center provides individualized care from a multidisciplinary team with extensive experience caring for patients with bone marrow failure.
We work closely with our pediatric colleagues in the Bone Marrow Failure and Myelodysplastic Syndromes Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, one of the largest and most renowned pediatric bone marrow failure and myelodysplastic syndromes (MDS) programs in the world. Together, our program is one of only a few dedicated centers in the country to offer a continuum of care for bone marrow failure patients as they move from childhood into adulthood. We provide a smooth transition as patients grow; expert, compassionate care; and coordinated research efforts to improve treatment options and outcomes for patients with bone marrow failure.
What is Bone Marrow Failure?
Bone marrow failure develops when the bone marrow is unable to produce enough healthy blood cells for an individual's needs. The bone marrow is the soft, spongy center of the bones that is the body's factory where all blood cells are produced. These include:
- Red blood cells, which carry oxygen throughout the body
- White blood cells, which fight disease and infection
- Platelets, which help blood to clot and stop bleeding
Our clinic has expertise in caring for patients with bone marrow failure due to inherited genetic mutations that disrupt normal blood cell production. Patients with these conditions may require support with blood transfusions, other medications to increase normal blood production, and in some patients, a blood stem cell transplant from a healthy donor.
Patients with bone marrow failure are at increased risk of developing blood cancers such as leukemia or MDS, other types of cancer, as well as other non-cancer medical conditions. They require routine surveillance/monitoring to manage this risk. The needs and care of patients with bone marrow failure are complex and vary for each individual. Therefore, it is important to be evaluated by a bone marrow failure specialist so that treatment and monitoring can be comprehensive and personalized.
Many patients are diagnosed with bone marrow failure as children. The Bone Marrow Failure and Myelodysplastic Syndrome Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center is recognized as one of the nation's best pediatric treatment and research programs for bone marrow failure, MDS, and related conditions. Our adult program ensures a smooth transition as these patients grow into adults as well as caring for patients who develop bone marrow failure as adults.
Types of Bone Marrow Failure
Below are some common types of bone marrow failure. All of these conditions are defined by an impaired ability to make enough healthy blood cells, including red blood cells, white blood cells, or platelets. This can lead to increased fatigue, risk of infection, bruising or bleeding. For each disorder, there are unique features and associated conditions that require specific monitoring.
- Dyskeratosis congenita and other telomere biology disorders: Dyskeratosis congenita is an inherited telomere biology disorder due to genetic mutations affecting telomere length, the very ends of our chromosomes. Patients with dyskeratosis congenita have very short telomeres, impaired blood production, and may have abnormalities of their nails, skin, and lining of the mouth. Patients with a telomere biology disorder are at increased risk of developing blood cancers, scarring of the lungs, and liver disease. We provide a comprehensive genetic and clinical assessment of patients with a telomere biology disorder, including telomere length measurement, genetic testing for patients and family members, blood cancer surveillance, and evaluation of lung and liver function.
- Shwachman-Diamond syndrome: Shwachman-Diamond syndrome is an inherited disorder that often presents with low white blood cell counts, frequent infections, and poor growth due to the inability to properly absorb food because of impaired function of the pancreas. Patients are often diagnosed very early in life but can also be diagnosed in adults. Routine blood count and bone marrow assessment is required to monitor for worsening blood production and development of blood cancers. In addition to blood-related issues, patients with Shwachman-Diamond syndrome are assessed for pancreatic function and referred to a gastroenterology specialist if indicated.
- Aplastic anemia: Aplastic anemia is defined by reduced blood stem cell production which leads to low numbers of white blood cells, red blood cells, and platelets. This can lead to increased fatigue, infection risk, bruising or bleeding. Aplastic anemia can be caused by immune destruction of healthy blood cells or from inherited mutations associated with bone marrow failure. It is important to determine the cause of aplastic anemia in order to determine the best treatment plan.
- Fanconi anemia: Fanconi anemia is an inherited disorder due to genetic mutations that result in an impaired ability to repair damaged DNA. When DNA repair is not functioning properly, blood stem cells accumulate excessive DNA damage which leads to decreased blood cell production. Patients with Fanconi anemia have an increased risk of developing some cancers and require routine screening by physicians with expertise in Fanconi anemia.
- Diamond-Blackfan anemia: Diamond-Blackfan anemia is defined by decreased production of healthy red blood cells, which are essential for carrying oxygen from the lungs to other parts of the body. Most patients with Diamond-Blackfan anemia are diagnosed very early in life and require transfusions of red blood cells. Complications related to excess iron in the body from blood transfusions is a significant problem for patients and requires close monitoring. While steroids can be an effective treatment Diamond-Blackfan anemia, patients should be assessed for complications due to long-term steroid use including bone density and blood sugar control.
- GATA2-related disorders: Patients with inherited deficiency of GATA2 frequently have low blood counts, frequent infections, and an increased risk of developing blood cancers.
- SAMD9/SAMD9L-related disorders: Patients with inherited mutations in the SAMD9 and SAMD9L genes have an increased risk of developing bone marrow failure and developing blood cancers.
Signs and Symptoms of Bone Marrow Failure
Since bone marrow failure affects the healthy blood cell production, patients with bone marrow failure often experience:
- Fatigue
- Shortness of breath
- Pale appearance
- Frequent infections
- Easy bruising or bleeding
- Bone pain
These symptoms can have many causes and may not be due to cancer. However, it is important that you discuss persistent symptoms with your primary care doctor.
Factors Affecting Prognosis
Bone marrow failure can often be managed with supportive treatment and close monitoring/active surveillance. In some patients, bone marrow failure can increase their risk of developing aggressive blood cancers such as acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The risk for developing blood cancers varies among bone marrow failure disorders. Our specialists develop individualized surveillance strategies based on each patient's condition and history. Monitoring will include routine blood counts, bone marrow assessments, and blood molecular sequencing to assess for earliest signs of blood cancer. Patients who display early signs of blood cancer may have the opportunity to participate in clinical trials and research evaluating prevention strategies through the Center for Early Detection and Interception of Blood Cancers (formerly the Center for Prevention of Progression).
