The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation [PDF]
Scientific ReportsX-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Daniel Jové-Solavera +12 more
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Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia. [PDF]
CureusSideroblastic anemia is characterized by anemia, granulocytopenia, and bone marrow findings of vacuolated precursors and ringed sideroblasts. Zinc-induced copper deficiency can present as sideroblastic anemia and neutropenia.
Stagg MP, Miatech J, Majid B, Polala R.
europepmc +3 more sources
Severe isoniazid related sideroblastic anemia
Hematology Reports, 2011 Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment.
Rein Jan Piso +2 more
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Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia [PDF]
Clinical Case Reports, 2018 Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim +3 more
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A novel ALAS2 mutation causes congenital sideroblastic anemia [PDF]
Mediterranean Journal of Hematology and Infectious Diseases, 2023 Kun Yang
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A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
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SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. [PDF]
Hum Mutat, 2021 Heeney MM +26 more
europepmc +3 more sources
[New mutation of congenital sideroblastic anemia: a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2021 Han X +6 more
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Ring sideroblasts and sideroblastic anemias
Haematologica, 2011 The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire +5 more sources