title: Congenital dyserythropoiesis with intererythroblastic chromatin bridges and ultrastructurally-normal erythroblast heterochromatin: a new disorder.
abstract: Two non-anaemic subjects, a father and daughter, with a new form of congenital dyserythropoiesis are reported. The features of their disorder are: (1) an abnormal blood film with basophilic stippling of red cells and oval macrocytes, (2) various dysplastic changes in the erythroblasts, including internuclear chromatin bridges, (3) ultrastructurally-normal erythroblast heterochromatin, (4) normal serum thymidine kinase activity, and (5) a probable autosomal dominant inheritance. The last three features distinguish this disorder from CDA type I.
authors.affiliation: Department of Haematology, Imperial College School of Medicine, St Mary's Campus, London, UK.
authors.forename: S N
authors.initials: SN
authors.lastname: Wickramasinghe
authors.forename: R L
authors.initials: RL
authors.lastname: Spearing
authors.forename: G R
authors.initials: GR
authors.lastname: Hill
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000201:enzymology / Q000473:pathology*; D002675:Child, Preschool; D002843:Chromatin / Q000648:ultrastructure*; D004900:Erythroblasts / Q000648:ultrastructure*; D006570:Heterochromatin / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008875:Middle Aged; D013937:Thymidine Kinase / Q000378:metabolism
chemical_list: D002843:Chromatin; D006570:Heterochromatin; D013937:Thymidine Kinase