Diamond-Blackfan syndrome and neutropenia.
Neutropenia is a rare complication of Diamond-Blackfan syndrome (congenital hypoplastic anaemia). Three patients are reported: all had neutropenia as well as anaemia, and to investigate the cause of the neutropenia culture of bone marrow for granulocyte-macrophage colony forming cells (GMCFCs) was performed. Two cases had a low incidence of GMCFCs, but the third case had a high incidence. These findings suggest that myeloid precursors can be abnormal in Diamond-Blackfan syndrome and that the mechanism of neutropenia may, like that of anaemia, vary from patient to patient.
Schofield
K P
KP
Department of Haematology, North Manchester General Hospital.
Evans
D I
DI
D000741:Anemia, Aplastic / Q000097:blood / Q000151:congenital*; D001772:Blood Cell Count; D001853:Bone Marrow / Q000737:chemistry; D005260:Female; D006098:Granulocytes / Q000737:chemistry; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009503:Neutropenia / Q000097:blood / Q000209:etiology*; D010976:Platelet Count; D013577:Syndrome