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Sideroblastic Anemia: Molecular Analysis of the ALAS2 Gene in a Series of 29 Probands and Functional Studies of 10 Missense Mutations [PDF]
Human Mutation, 2011 X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Hervé Puy +2 more
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Sideroblastic Anemia Terminating in Myelofibrosis
American Journal of Hematology, 1982AbstractTwo patients with primary acquired sideroblastic anemia who eventually developed myelofibrosis with myeloid metaplasia are reported. Splenectomy was performed in one patient because of increasing blood transfusion requirements, and splenic histology revealed both myeloid metaplasia and ringed sideroblasts.
T J Myers +2 more
exaly +3 more sources
Meme biosynthesis in sideroblastic anemia
International Journal of Biochemistry, 1980Abstract The activities of δ-aminolevulinic acid synthase (ALA-S), δ-aminolevulinic acid dehydratase (ALA-D), uroporphyrinogen I synthase (Uro-I-S), uroporphyrinogen decarboxylase (Uro-DC) and heme synthase have been studied in peripheral red blood cells of 9 patients with hereditary sideroblastic anemia (HSA) and 8 patients with refractory ...
A V, Pasanen +3 more
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Cytogenetic studies in sideroblastic anemia
Cancer, 1976Cytogenetic studies were performed on bone marrow aspirates from seven patients with acquired sideroblastic anemia. In one male patient a 45,X cell line was present in each of three bone marrow aspirates. The remaining six patients had a normal chromosome complement. The abnormal stem line in the bone marrow may be unrelated to the hematologic disorder
M K, Jensen, M, Mikkelsen
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Zinc abuse and sideroblastic anemia
American Journal of Hematology, 1993AbstractWe report the case of a young woman who presented with anemia and leukopenia. A bone marrow aspirate, revealed a marked excess of ringed sideroblasts. A detailed dietary history disclosed excessive zinc intake. High serum zinc and low serum copper concentrations were confirmed.
J, Ramadurai +3 more
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Hematology Meeting Reports, 2009
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in the bone marrow.1 These latter are immature red cells with iron-loaded mitochondria visualized by Prussian blue staining as a perinuclear ring of blue granules. The most common of
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The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in the bone marrow.1 These latter are immature red cells with iron-loaded mitochondria visualized by Prussian blue staining as a perinuclear ring of blue granules. The most common of
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JAMA: The Journal of the American Medical Association, 1987
P I, Liu, J Y, Lim
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P I, Liu, J Y, Lim
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Hereditary Sideroblastic Anemia
Hospital Practice, 1991V F, Fairbanks +2 more
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Orvosi hetilap, 1992
The sideroblastic anaemias form a group of disorders of varying aetiology. They are being recognized with increasing frequency, especially as routine staining of bone marrow films for iron is now standard practice in most foreign laboratories. The sideroblastic anaemias have as a common feature the presence of large numbers of pathologic (ringed ...
I, Bernát Sándor +3 more
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The sideroblastic anaemias form a group of disorders of varying aetiology. They are being recognized with increasing frequency, especially as routine staining of bone marrow films for iron is now standard practice in most foreign laboratories. The sideroblastic anaemias have as a common feature the presence of large numbers of pathologic (ringed ...
I, Bernát Sándor +3 more
openaire +1 more source