Diamond–Blackfan anemia

Diamond–Blackfan anemia is an inherited bone marrow failure disorder in which red blood cell production is impaired, usually causing anemia in infancy. It is often associated with physical differences and an increased risk of certain cancers.

Ribosomopathy: A disease caused by abnormal ribosome production or function. Diamond–Blackfan anemia is a leading example of disease arising from impaired ribosome production.
Bone marrow biopsy: A procedure that removes a small sample of bone marrow for examination. Marrow examination can show reduced red-cell precursors while other blood-cell lineages are relatively preserved.
Congenital anomaly: A structural or functional difference present from birth. Some people with Diamond–Blackfan anemia have congenital differences affecting the face, limbs, heart, or urinary system.
Fanconi anemia: An inherited disorder of DNA repair that causes bone marrow failure and congenital abnormalities. Unlike Diamond–Blackfan anemia’s predominantly red-cell failure, Fanconi anemia often progresses to multiple blood-cell deficiencies.
Clonal hematopoiesis: The expansion of blood-forming cells descended from a single genetically altered stem cell. Clonal changes may emerge over time, but their significance for individual patients remains under study.
Ribosome: A cellular complex that translates messenger RNA into proteins. Ribosomal proteins encoded by many affected genes are essential to the disorder’s molecular mechanism.
Reticulocyte: An immature red blood cell recently released from the bone marrow. A low reticulocyte count helps identify the inadequate red-cell production characteristic of the disorder.
Iron overload: Excess iron accumulation in body tissues that can damage organs. Repeated transfusions can cause iron overload, making monitoring and iron-removal treatment important.
Shwachman–Diamond syndrome: An inherited disorder involving bone marrow dysfunction, pancreatic insufficiency, and skeletal abnormalities. Its characteristic pancreatic and neutrophil problems distinguish it from predominantly red-cell failure.
Cancer predisposition: An increased inherited or acquired likelihood of developing cancer. The mechanisms linking ribosomal dysfunction to elevated cancer risk are not fully understood.

Linked from 1 page