What is bone marrow?
Bone marrow is a spongy-looking material found in the body's large bones. It is home to hematopoetic stem cells, which produce blood cells. Each type of blood cell has a special purpose:
What is bone marrow failure?
Bone marrow failure means the body cannot produce enough of some or all of the blood cells that the body needs. Bone marrow failure syndromes include a group of inherited hematopoietic (blood-forming) stem cell disorders that can worsen over time and become life-threatening.
What are the types of bone marrow failure disorders?
Inherited bone marrow failure syndromes (IBMF) are genetic disorders that interfere with normal bone marrow function. This can lead to serious and even life-threatening complications. Although many of these disorders are passed on from parents, in some patients, a malfunctioning gene may arise spontaneously. IBMF disorders are often associated with multiple birth defects and other serious medical problems.
Symptoms of these conditions may include the following:
Patients with IBMF disorders are at significantly higher risk of developing leukemia, myelodysplastic syndrome (MDS) and other cancers. Some patients do not display all physical characteristics of IBMF syndromes, which necessitates detailed diagnostic studies and careful medical management.
Inherited disorders that can cause bone marrow failure include:Amegakaryocytic Thrombocytopenia
Acquired bone marrow failure is not inherited (genetically transmitted) or associated with other birth defects and cancer predisposition. Aplastic anemia is the most common form of acquired bone marrow failure and refers to conditions where blood counts are low because the bone marrow has become empty of blood forming cells.
Acquired aplastic anemia in children can occur for no known cause (idiopathic), or as the result of another illness or condition. A history of some infectious diseases such as hepatitis, Epstein-Barr virus (EBV), cytomegalovirus (CMV), or human immunodeficiency virus (HIV); autoimmune illnesses such as lupus; exposure to toxins such as heavy metals and high doses of radiation; and certain medications can lead to acquired aplastic anemia.
If your child’s physician suspects bone marrow failure, he or she may order the following tests in addition to completing a complete medical history and physical exam:
- blood tests
- bone marrow aspirate/biopsy (using a needle to remove bone marrow cells for testing)
- studies (MRI or PET)
In some patients, the diagnostic process can be more extensive and requires additional complex testing.
Most young inherited bone marrow failure patients are diagnosed by age 8-10 through a comprehensive medical history, medical exam, blood tests, and a bone marrow examination. They often exhibit one or more of the following physical traits:
The main symptom of bone marrow failure is low blood counts for some or all blood cell types (including red blood cells, white blood cells and platelets). The signs of bone marrow failure vary depending on which blood cells are most affected.