نتایج جستجو برای: sideroblastic anemia
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A patient with idiopathic sideroblastic anemia and atypical clinical and biochemical findings is described. He had a greatly increased erythrocyte and plasma protoporphyrin, but normal urine and fecal porphyrins. The erythrocyte protoporphyrin had a fluorescence spectrum typical of free protoporphyrin, but caused no photosensitivity. Bone marrow metal chelatase activity was normal. There were n...
Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts. The pathogenesis of RARS and the cause of this unusual pattern of iron deposition remain unknown. We considered that the inherited X-linked sideroblastic anemia with ataxia (XLSA/A) might be informative for the acquired ...
BACKGROUND Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA). METHODS A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used. RESULTS A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 ...
In order to determine the prevalence and percentage distribution of ringed sideroblasts in primary myelodysplastic syndromes, the results of Prussian blue staining were analysed in 133 cases. Ringed sideroblasts ranging from 1 to 86% of cells were found in 76 (57%) cases. The cases of primary myelodysplastic syndrome corresponding to the group entitled "acquired idiopathic sideroblastic anaemia...
Structural abnormalities of the X chromosome are rarely found in neoplastic disorders. We describe three patients with a history of idiopathic acquired sideroblastic anemia (IASA); each one had an abnormal clone of cells in the bone marrow, characterized by a structurally abnormal X chromosome. In two of these patients, the predominant karyotype was 47,X,2idic(X)(q13); in the other patient, it ...
Recently, the human gene encoding erythroid-specific delta-aminolevulinate synthase was localized to the chromosomal region Xp21-Xq21, identifying this gene as the logical candidate for the enzymatic defect causing "X-linked" sideroblastic anemia. To investigate this hypothesis, the 11 exonic coding regions of the delta-aminolevulinate synthase gene were amplified and sequenced from a 30-year-o...
The patient, the first child of Turkish first-cousins, was born at term after an uncomplicated pregnancy. Birth parameters were normal. The family history was negative for hematological or neurological diseases. The newborn period was characterized by hypoglycemia, lactic acidemia (6.1 mmol/L; normal values: up to 1.9 mmol/L), and lactic, pyruvic, and dicarboxylic aciduria. At 10 months of age,...
Iron-sulfur (Fe-S) proteins contain prosthetic groups consisting of two or more iron atoms bridged by sulfur ligands, which facilitate multiple functions, including redox activity, enzymatic function, and maintenance of structural integrity. More than 20 proteins are involved in the biosynthesis of iron-sulfur clusters in eukaryotes. Defective Fe-S cluster synthesis not only affects activities ...
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