[Anemia and dysmyelopoiesis with marker chromosome and transferrin receptor anomaly].
A 64-year old man presented with microcytic hypochromic aplastic acquired anemia without iron depletion. His bone marrow was hypercellular with dyserythropoiesis and no stainable iron deposits. 59 Fe incorporation by erythroblasts was reduced, and the karyotype revealed an aneuploidy with marker chromosome. After study of transferrin receptor with specific antibody, we conclude that the receptor presents a functional defect.
D000747:Anemia, Hypochromic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D000911:Antibodies, Monoclonal; D001853:Bone Marrow / Q000473:pathology*; D001856:Bone Marrow Examination; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D004900:Erythroblasts / Q000378:metabolism; D004920:Erythropoiesis; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011956:Receptors, Cell Surface / Q000378:metabolism*; D011990:Receptors, Transferrin
D000911:Antibodies, Monoclonal; D011956:Receptors, Cell Surface; D011990:Receptors, Transferrin; D007501:Iron
Anémie et dysmyélopoïèse avec chromosome marqueur et anomalie du récepteur de la transferrine.