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A study of a female with congenital sideroblastic anemia
American Journal of Hematology, 1982AbstractA female infant with congenital refractory sideroblastic anemia is described. A market reduction of δ‐aminolevulinic acid (ALA) synthetase activity of erythroblasts was noticed with and without treatment of pyridoxal phosphate. Mitochondrial neutral protease activity of erythroblasts, which inactivates specifically the apo form of ALA ...
Shiro Seto +3 more
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Refractory Sideroblastic Anemia Secondary to Autoimmune Hemolytic Anemia
Acta Haematologica, 1977A 75-year-old woman was hospitalized with autoimmune hemolytic anemia. During a period of 22 months the patient had six hemolytic crises which responded to treatment with prednisone and azathioprine. During the last admission the patient presented a sideroblastic anemia with 98% of 'ring sideroblasts' in the bone marrow.
Antonio Celada, J J Farquet, A F Muller
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Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia.
New England Journal of Medicine, 2023semanticscholar +1 more source
Two new mutations in the GLRX5 gene cause sideroblastic anemia.
Blood Cells, Molecules & Diseases, 2023Andrés Felipe Melo Arias +6 more
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X-linked sideroblastic anemia in females.
BloodX-linked sideroblastic anemia (XLSA) in carrier females of ALAS2 mutations is not uncommon. We describe unique features and genotype/phenotype correlations in XLSA females and evaluate the contributions of X-chromosome skewing and clonal hematopoiesis ...
Sarah Ducamp +7 more
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Sideroblastic Anemias: Diagnosis and Management
2016The term sideroblastic anemia (SA) is used to define a diverse group of disorders with the common finding of ringed sideroblasts noted on bone marrow evaluations (Fig. 1). The presence of this morphology is due to iron deposition in the mitochondria of the erythroid progenitor cells. Congenital SA may be due to one of several defined gene abnormalities
Anthony Villella +2 more
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[Molecular pathophysiology of sideroblastic anemia].
[Rinsho ketsueki] The Japanese journal of clinical hematology, 2018Sideroblastic anemias (SAs) are heterogeneous congenital and acquired disorders characterized by anemia and the presence of ring sideroblasts in bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes that are involved in heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein ...
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