title: Congenital dyserythropoietic anemia type II. Radioautographic, ultrastructural and cytogenetical study in two familial cases.
abstract: The case of two sisters is reported in whom morphological (multinucleated erythroblasts in the bone marrow) and serological (positive Ham test, negative sucrose and water-sugar tests) characteristics of a congenital dyserythropoietic anemia type II were found. Radioautographic, cytogenetic and electron microscope studies confirmed the presence of an inefficient erythropoiesis and of a membrane defect, common in this disease. The finding of a nil LAP score has never been reported so far.
mesh_terms: D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology / Q000648:ultrastructure*; D001854:Bone Marrow Cells; D002462:Cell Membrane / Q000648:ultrastructure; D004247:DNA / Q000096:biosynthesis; D004900:Erythroblasts / Q000648:ultrastructure; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure*; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D007621:Karyotyping
chemical_list: D004247:DNA