Refractory anemia with ringed sideroblasts (RARS)

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Refractory anemia with ring sideroblasts associated with thrombocytosis (RARS-T).

A 75-year-old woman who was previously healthy was investigated for chronic anemia. Her hemoglobin was 94 g/L with a mean corpuscular volume of 108 fL, white cell counts were normal, and platelet count was high (480 3 10/L). Blood film showed marked red cell anisocytosis with dimorphic pattern, stomatocytes, no neutrophil dysplasia, and no blasts (panel A-B). Bone marrow aspirate smear demonstr...

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Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) with superimposed 5q-syndrome.

Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) is a rare entity belonging to myeloproliferative/myelodysplastic syndromes. Myelodysplastic syndrome (MDS) with isolated del(5q) is a category of MDS characterized by better prognosis and specific morphology. Herein we describe a 69-year-old male with anaemia and thrombocytosis presenting with coexisting ...

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Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation.

JAK2 V617F mutation recently was identified as a pathogenic factor in typical chronic myeloproliferative diseases (CMPD). Some forms of myelodysplastic syndromes (MDS) show a significant overlap with CMPD (classified as MDS/MPD), but the diagnostic assignment may be challenging. We studied blood or bone marrow from 270 patients with MDS, MDS/MPD, and CMPD for the presence of JAK2 V617F mutation...

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Initially Diagnosed with Acquired Refractory Anemia and Ringed Sideroblasts

X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific 6-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic response to pyridoxine is variable and rarely complete. We report two unrelated cases of highly pyridoxine-...

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Myelodysplastic syndromes: prognostic significance of multilineage dysplasia in patients with refractory anemia or refractory anemia with ringed sideroblasts.

although full irreversible aggregation was impaired.1 But inhibition of full, irreversible aggregation by wortmannin did not impair thromboxane A2 accumulation in response to LIBS6 plus fibrinogen. These data suggest that the close platelet-to-platelet contact that is brought about by platelet aggregation (primary or full) is not sufficient to generate thromboxane A2 and depends on signaling fr...

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ژورنال

عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology

سال: 2011

ISSN: 1768-3262

DOI: 10.4267/2042/38055