Bone Marrow Failure Syndromes

Blood cells and their precursors are produced in the bone marrow and then released into the peripheral blood. These cells have important functions – white blood cells fight infection, red blood cells deliver oxygen to tissues in the body, and platelets help with clot formation and bleeding control. Bone marrow failure syndromes (BMFS) can result when blood cells are not produced adequately. It may present with only one decreased cell line or with all three cell lines being low (pancytopenia). It can be noted shortly after birth or may develop later in life. BMFS may occur due to a genetic predisposition. Acquired causes including infectious or drug/toxin exposure may also be a cause. In many cases, however, an underlying cause is not found. Blood tests and bone marrow evaluation are used to diagnose BMFS. Management of BMFS depends on the type and its underlying cause. Treatment may include immunosuppression, blood transfusions, and/or bone marrow transplant

Types of BMFS include:

  • Amegakaryocytic thrombocytopenia
  • Aplastic anemia
  • Diamond-Blackfan anemia
  • Dyskeratosis congenita
  • Fanconi anemia
  • Severe congenital neutropenia
  • Shwachman-Diamond syndrome
  • Thrombocytopenia with absent radii


The Pediatric Hematologists at UTHealth see patients with bone marrow failure syndromes in UTP clinics and coordinated care with transfusions and inpatient services at Memorial Hermann Hospital and transplantation services at MD Anderson Cancer Center.