Bone Marrow Failure

Bone marrow failure is the decreased ability of your bone marrow to produce blood cells. Bone marrow is the tissue that fills the inside of your bones. Its most important job is to produce new blood cells and release them into the bloodstream.

There are three main types of blood cells:

White blood cells (fight infections)
Red blood cells (carry oxygen from our lungs to the rest of the body)
Platelets (seal wounds and stop bleeding)

Some bone marrow failure conditions are genetic, which means they are inherited from a family member. Bone marrow failure caused by genetics may be associated with slow growth, developmental problems, certain cancers, frequent or unusual infections or brain, kidney, liver or bone abnormalities. Some types of bone marrow failure can be life-threatening. Treatment requires a hematologist-oncologist (blood and cancer doctor) who specializes in treating these conditions and collaborates with other pediatric specialists to develop a personalized management plan for your child.

There are many types of bone marrow failure, including bone marrow failure associated with primary immunodeficiency diseases and cancer predisposition (when genetics increases a person's risk for certain cancers). Some bone marrow failure types include:

Acquired aplastic anemia
Fanconi anemia
Barth syndrome
Diamond-Blackfan anemia
Shwachman-Diamond syndrome
Severe congenital neutropenia
Leukocyte adhesion deficiency (LAD)
Chronic granulomatous disease (CGD)
Severe combined immunodeficiency (SCID)
Li-Fraumeni syndrome

The symptoms of bone marrow failure depend on the type of blood cell that is affected as well as genetic factors. Many children with bone marrow failure do not feel sick, and their condition is only discovered when a doctor orders blood counts for a different reason. In other children, decreased blood cells can cause a wide range of problems.

Bone marrow failure symptoms can include:

Feeling tired, sleepy or dizzy
Headaches
Pale skin
Easy bruising
Easy bleeding
Prolonged bleeding
Frequent or unusual infections
Unexplained fevers
Mouth sores
Pinpoint-sized dots on the skin (petechiae)

Diagnosis of Bone Marrow Failure

Understanding the cause of bone marrow failure in each patient is extremely important, because the best therapy will depend on what caused the bone marrow to fail. Children with inherited bone marrow failure syndromes need a comprehensive screening, as the genetic problems are often associated with undiagnosed abnormalities in other organs. Doctors at Riley at IU Health may use the following tests to diagnose bone marrow failure:

Blood tests
Bone marrow biopsy
Genetic tests
Tests for infections that can damage bone marrow or occur when bone marrow is not functioning properly
Comprehensive evaluation of the immune system
Other tests based on the personalized treatment plan developed by your child's doctors

Whole-exome sequencing is another test used if candidate gene tests do not help establish a diagnosis.

Treatments

Treatment may include:

Observation. Your child will be seen regularly by the doctor. This allows the doctor to watch carefully for any changes in your child's condition. Patients with inherited bone marrow failure syndromes such as Fanconi anemia require close surveillance by multiple specialists to monitor for disease-specific symptoms.
Transfusions of red blood cells or platelets. This procedure includes infusing red blood cells or platelets through an intravenous (IV) line.
Medicines. Various medicines may be prescribed to increase production of blood cells.
Immunosuppression. This procedure involves the use of medicines to suppress the immune system if the bone marrow failure occurs due to immune system dysfunction (such as in immune-mediated severe aplastic anemia).
Stem cell transplant. Also known as bone marrow transplant, this type of transplant is based on the elimination of diseased bone marrow followed by an infusion of healthy bone marrow cells. This allows your child to make his or her own blood cells

Key Points to Remember

Bone marrow failure occurs when bone marrow stops producing blood cells, which may include white blood cells, red blood cells or platelets.
Frequently, bone marrow failure does not cause obvious symptoms, so it is often discovered from the results of a standard blood test.
There are many types of bone marrow failure; some types are caused by genetic factors.
Sometimes bone marrow failure can be life-threatening, requiring treatment to be directed by specialized blood and cancer doctors.

Support Services & Resources

Visit the links below to learn more about conditions associated with bone marrow failure and discover support groups and resources.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

National Heart, Lung and Blood Institute

This guide from the National Heart, Lung and Blood Institute provides information on the various types of anemia, including aplastic anemia.

National Institute of Neurological Disorders and Stroke

This website describes Barth syndrome treatment, prognosis and research.

Genetics Home Reference

Learn more about Shwachman-Diamond syndrome, severe congenital neutropenia and Li-Fraumeni syndrome on this U.S. National Library of Medicine website.

National Institute of Allergy and Infectious Diseases

This website provides information about leukocyte adhesion deficiency, including information about treatment and research.

National Human Genome Research Institute

This website describes severe combined immunodeficiency (SCID), including information about research and other information resources for this condition.

Bone Marrow Failure Research

Research on bone marrow failure is conducted at the Herman B. Wells Center for Pediatric Research. The current research focuses primarily on the mechanisms of bone marrow failure and cancer in patients with Fanconi anemia and other inherited bone marrow failure syndromes.

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.