About These Disorders
Individuals with FA often have physical abnormalities and their laboratory findings include bone marrow failure, increased chromosome breakage in cells grown in the presence of a chemical which damages DNA.
Individuals with telomere biology disorders are born with abnormally short telomeres and may have various medical complications.
Individuals with SDS have poor food absorption (malabsorption) and low white blood cell counts (neutropenia).
Diamond Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome characterized by a failure in red blood cell production.