| Sideroblastic anaemia. | |
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MedLine Citation:
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PMID: 7881157 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A May; E Fitzsimons |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Baillière's clinical haematology Volume: 7 ISSN: 0950-3536 ISO Abbreviation: Baillieres Clin. Haematol. Publication Date: 1994 Dec |
Date Detail:
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Created Date: 1995-04-11 Completed Date: 1995-04-11 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8800474 Medline TA: Baillieres Clin Haematol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 851-79 Citation Subset: IM |
Affiliation:
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University of Wales College of Medicine, Cardiff, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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5-Aminolevulinate Synthetase
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genetics,
metabolism Anemia, Sideroblastic / etiology*, genetics, metabolism Biological Transport Chloramphenicol / adverse effects Copper / deficiency, metabolism DNA, Mitochondrial / genetics Erythrocytes / metabolism Ferrochelatase / metabolism Globins / biosynthesis Heme / biosynthesis Humans Hydroxymethylbilane Synthase / metabolism Iron / metabolism Linkage (Genetics) Mutation Pyridoxal Phosphate / metabolism Syndrome X Chromosome |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; 14875-96-8/Heme; 54-47-7/Pyridoxal Phosphate; 56-75-7/Chloramphenicol; 7439-89-6/Iron; 7440-50-8/Copper; 9004-22-2/Globins; EC 2.3.1.37/5-Aminolevulinate Synthetase; EC 2.5.1.61/Hydroxymethylbilane Synthase; EC 4.99.1.1/Ferrochelatase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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