[Refractory sideroblastic anaemia of primary and acquired appearance (author's transl)].
This anaemia begun at the age of 40 years. The patient died 17 years later. There was no leukaemic transformation. The authors describe the enzyme abnormalities found in the red cells (increased urosynthetase) and/for of raised serum iron levels in relatives, such that the truly acquired and apparently primary nature of this blood disease must be brought into question.
D000328:Adult; D000368:Aged; D000741:Anemia, Aplastic / Q000175:diagnosis / Q000209:etiology*; D000756:Anemia, Sideroblastic / Q000097:blood / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D004913:Erythrocytes, Abnormal / Q000201:enzymology; D005260:Female; D005980:Glutathione Reductase / Q000032:analysis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D007501:Iron / Q000097:blood; D008297:Male; D010732:Phosphofructokinase-1 / Q000032:analysis
D007501:Iron; D005980:Glutathione Reductase; D011163:Hydroxymethylbilane Synthase; D010732:Phosphofructokinase-1
Anémie réfractaire sidéroblastique d'apparence primitive et acquise.