Inherited Bone Marrow Failure Syndromes (IBMFS)

The inherited bone-marrow failure conditions (IBMFS) can be described as a set that are rare blood diseases caused by genetics where there is usually a type of anemic anemia (failure in the bone marrow in producing blood) which is accompanied by an ancestor’s background of the same disorder. Certain of these disorders have characteristic changes in the physical appearance or in laboratory tests that suggest a specific diagnosis. There are many well-defined disorders that are recognized by health professionals. There are some patients that are difficult to categorize, but they do appear to fall to this category. People with these conditions are at a high risk of developing cancer (either leukemia or specific types of solid tumors).

The most common conditions are:

• Amegakaryocytic blood clots (Amega)
• Diamond Blackfan anemia (DBA)
• Dyskeratosis congenita (DC)
• Fanconi anemia (FA)
• Pearson syndrome
• Severe congenital neutropenia (SCN)
• The Shwachman Diamond Syndrome (SDS)
• Thrombocytopenia absent radii (TAR)
• Other bone marrow dysfunction conditions