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Unique Identifier 95186865
Authors: May A. Fitzsimons E.
Institution: University of Wales College of Medicine, Cardiff, UK.
Title: Sideroblastic anaemia. [Review] [126 refs]
Source: Baillieres Clinical Haematology. 7(4)851-79, 1994 Dec.
Abstract: The startling morphological abnormalities of sideroblastic anaemia contrasts our uncertainty about its cause. Studies are hampered by the fact that the abnormality resides in the dividing and differentiating erythroblast which is difficult to obtain pure and in large numbers, and in which many levels of metabolic control must coexist. Recent molecular biology approaches have confirmed abnormalities of erythroid delta-aminolaevulinic acid synthase as the cause of X-linked, pyridoxine-responsive sideroblastic anaemia and mitochondrial DNA deletions as the most common cause of congenital macrocytic sideroblastic anaemia. They have also identified a second X-linked sideroblastic anaemia locus linked to phosphoglycerate kinase and associated with ataxia. An association between sideroblastic anaemia and the use of an oral copper chelating agent has highlighted unexplained links between erythroid copper and iron metabolism. Management decisions in relation to pyridoxine treatment, iron reduction, family studies, genetic counselling and antenatal diagnosis have in recent years become of practical relevance to families with known cases of congenital sideroblastic anaemia and careful documentation of the clinical outcome of these cases and of other family members is invaluable. Parallel and integrated studies on the molecular biology of erythroid differentiation are revealing the range of possible controlling influences on erythroblasts and defining the circumstances for each, allowing studies on the cause of the most prevalent form of sideroblastic anaemia (the idiopathic acquired form) and those inherited forms that are not X-linked to be approached with a much clearer perspective. [References: 126]

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Unique Identifier 90181325
Authors: Gattermann N. Aul C. Schneider W.
Institution: Abteilung fur Hamatologie, Onkologie und klinische Immunologie, Medizinische Klinik und Poliklinik der Universitat Dusseldorf.
Title: Two types of acquired idiopathic sideroblastic anaemia (AISA)
Source: British Journal of Haematology. 74(1)45-52, 1990 Jan. [see comments]
Abstract: On cytological bone marrow examination we distinguished between pure sideroblastic anaemia (PSA), which is confined to dyserythropoiesis, and refractory anaemia with ring sideroblasts (RARS), which is characterized by additional dysplastic features of granulopoiesis and/or megakaryopoiesis. In a follow-up study of 94 patients with AISA diagnosed according to FAB criteria for myelodysplastic syndromes we found a striking difference in the risk of leukaemic transformation between PSA and RARS (5 year cumulative rate 1.9% v. 48%). Overall survival was much better in PSA than in RARS (5 year cumulative chance 69% v. 19%). Infections and haemorrhages were frequent causes of death in RARS but not in PSA. Bone marrow culture studies (CFU-GM) were performed on 10 consecutive patients with PSA and RARS, respectively. RARS patients showed grossly impaired colony growth, typical of the myelodysplastic syndromes. Patients with PSA had persisting colony formation, even if moderately decreased in frequency, with numbers of CFU-GM being inversely correlated with the degree of erythroid hyperplasia in the bone marrow. We conclude that on cytomorphological grounds AISA can be divided into pure (dyserythropoietic) sideroblastic anaemia (PSA) and a true myelodysplastic form (RARS), with both types differing considerably in terms of survival, risk of leukaemic transformation and findings on bone marrow culture (CFU-GM).

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