title: Haem biosynthesis in refractory sideroblastic anaemia associated with the preleukaemic syndrome.
abstract: The activities of 5 enzymes of the haem biosynthetic pathway and the protoporphyrin concentrations have been measured in peripheral red blood cells of 23 patients having a preleukaemic syndrome with refractory sideroblastic anaemia. A decreased delta-aminolaevulinic acid synthase (ALA-S) activity, an increased uroporphyrinogen I synthase activity and an increased red cell protoporphyrin concentration were consistent findings. Patients with abnormal leucocyte and/or platelet counts in the peripheral blood as well as patients with an excess of blast cells in the bone marrow had the lowest ALA-S activities. A further decrease in ALA-S activity was observed in 3 patients after leukaemic change in the disease. Patients having cytogenetic abnormalities showed no unique enzyme abnormalities. These results indicate that enzymatic disturbances of haem synthesis cannot be used as prognostic indicator of leukaemic transformation in refractory sideroblastic anaemia, but a very low ALA-S activity appears to accompany the development of a leukaemia in such patients.
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000032:analysis; D000328:Adult; D000368:Aged; D000756:Anemia, Sideroblastic / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005294:Ferrochelatase / Q000032:analysis; D006418:Heme / Q000096:biosynthesis*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000032:analysis; D008297:Male; D008875:Middle Aged; D000623:Porphobilinogen Synthase / Q000032:analysis; D011289:Preleukemia / Q000097:blood / Q000235:genetics / Q000378:metabolism*
chemical_list: D006418:Heme; D000624:5-Aminolevulinate Synthetase; D011163:Hydroxymethylbilane Synthase; D000623:Porphobilinogen Synthase; D005294:Ferrochelatase