title: Congenital dyserythropoiesis characterized by marked macrocytosis, vitamin B12- and folate-independent megaloblastic change and absence of the defining features of congenital dyserythropoietic anaemia types I or III.
abstract: Four patients with congenital dyserythropoiesis characterized by marked macrocytosis, little or no anaemia, and vitamin B12- and folate-independent megaloblastic erythropoiesis are reported. Their erythroblasts also showed various dysplastic changes but not those diagnostic for congenital dyserythropoietic anaemia (CDA) types I or III. The haematological features of the four patients, who included two siblings, resemble those of a previously reported patient and together these patients form a recognizable subgroup within those cases of CDA not belonging to CDA types I-III. In two of the cases studied, and possibly a third, the inheritance was as an autosomal recessive character.
authors.affiliation: Department of Haematology, Imperial College School of Medicine at St Mary's, London.
authors.forename: S N
authors.initials: SN
authors.lastname: Wickramasinghe
authors.forename: V E
authors.initials: VE
authors.lastname: Andrews
authors.forename: A M
authors.initials: AM
authors.lastname: O'Hea
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis; D002648:Child; D004920:Erythropoiesis / Q000502:physiology; D005260:Female; D005492:Folic Acid / Q000502:physiology; D006402:Hematologic Diseases / Q000151:congenital* / Q000473:pathology; D006801:Humans; D008297:Male; D008534:Megaloblasts / Q000473:pathology; D014805:Vitamin B 12 / Q000502:physiology
chemical_list: D005492:Folic Acid; D014805:Vitamin B 12