Bone Marrow Failure Syndromes

Bone marrow failure patients at C.S. Mott Children’s Hospital benefit from a team-based approach to care with access to medical experts within hematology/oncology, genetics, bone marrow transplantation, infectious disease, rheumatology and allergy/immunology. 

Our team has extensive research efforts in bone marrow failure syndromes and are actively involved in international efforts to better understand and treat these illnesses. This work includes clinical trials which focus on the management of care and improvement of quality of life for patients, and membership in the North American Pediatric Aplastic Anemia Consortium (NAPAAC).

Mott pediatric hematologists are recognized nationally as experts within the field with many having published peer-reviewed articles and received funding awards related to bone marrow failure syndromes. All these efforts help bring the latest and greatest care to our patients.

What is bone marrow failure syndrome?

There are three main types of blood cells in your child’s body: 

  • white blood cells, which work to ward off and fight infection.
  • red blood cells, which contain hemoglobin, carry iron and deliver oxygen to tissues throughout the body.
  • platelets, which help form clots and stop bleeding.

All these cells and their precursors are produced in your child’s bone marrow before maturing and being released into the blood stream. The bone marrow is located in the long bones of the body, namely the hips, upper leg and sternum. When the blood cells are not made in sufficient quantities or are abnormal, a bone marrow failure syndrome can result. Low peripheral blood counts can indicate a bone marrow failure.

Bone marrow failure syndromes may be present at birth or develop later in life. Some bone marrow failure syndromes are due to an underlying inherited genetic condition, while other bone marrow failure syndromes are due to an acquired cause such as viral or drug/toxin exposures. In many cases of bone marrow failure, the underlying cause cannot be identified and the term “idiopathic” is used. The bone marrow failure can manifest as one isolated cytopenia (one blood cell type decreased) or pancytopenia (all three blood cell types decreased).

Among the bone marrow failure conditions we care for here at the University of Michigan are:

  • Amegakaryocytic thrombocytopenia
  • Aplastic anemia, idiopathic or post-infectious
  • Diamond blackfan anemia
  • Deficiency of ADA2 (DADA2)
  • Dyskeratosis congenita
  • Fanconi anemia
  • MIRAGE syndrome
  • Paroxysmal nocturnal hemoglobinuria (PNH)
  • Pearson syndrome
  • Shwachman diamond syndrome
  • Thrombocytopenia with absent radii

Diagnosing bone marrow failure syndromes

Timely and correct diagnosis is of importance because the management and treatment of the inherited bone marrow failure syndromes differs from that of the acquired bone marrow failure syndromes. Each condition requires unique care and greatly benefits from a multidisciplinary care team of specialists. In cases of inherited bone marrow failure syndromes, rapid diagnosis of the condition facilitates focused disease surveillance, proper anticipatory guidance and minimization of disease- and treatment-related complications for the patient and potentially affected family members.

Bone marrow failure syndromes treatment

Treatment of bone marrow failure is heavily dependent on the underlying cause of the bone marrow failure, but can include careful monitoring of blood counts and supportive care, immunosuppression and/or bone marrow transplant.

Make an Appointment

For more information regarding the Immuno-Hematology Comprehensive Program, or to schedule an appointment, please call 1-877-475-MOTT.