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:
Abnormal thumbs and/or nails
Small head and eyes
Small reproductive organs in males
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:
Diamond-Blackfan Anemia (DBA)
Severe Congenital Neutropenia
Thrombocytopenia Absent Radii (TAR)
Other bone marrow failure syndromesAcquired bone marrow failure (Aplastic Anemia)
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.