Sideroblastic anaemia. A review of seven paediatric cases.
Sideroblastic Anaemias are characterised by a) chronic hypochromic anemia, b) ringed sideroblasts in the bone marrow, c) an increase in total body iron, d) ineffective erythropoiesis and e) often abnormal concentrations of F.E.P. A classification of Sideroblastic Anaemia is given and the pathophysiology of Sideroblastic Anaemia is discussed. A series of seven paediatric cases with Sideroblastic Anaemia is presented and the results of studies of the iron, vitamin B6 and porphyrin metabolism are discussed. In two cases arguments for an ALA-synthetase deficiency are given. All five males were diagnosed as hereditary X-linked Sideroblastic Anaemia, one female as I.R.S.A. and the other female, who showed the features of the X-linked type, as congenital Sideroblastic Anaemia.
D000624:5-Aminolevulinate Synthetase / Q000172:deficiency; D000293:Adolescent; D000328:Adult; D000756:Anemia, Sideroblastic / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D002648:Child; D005260:Female; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D011166:Porphyrins / Q000378:metabolism; D011736:Pyridoxine / Q000378:metabolism
D011166:Porphyrins; D007501:Iron; D000624:5-Aminolevulinate Synthetase; D011736:Pyridoxine