Frontiers in Cell and Developmental Biology, 2022 Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors.
Vinaya Vishwanathan, Patrick D’Silva
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Congenital sideroblastic anemia: A report of two cases
Indian Journal of Pathology and Microbiology, 2009 Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked,
Gupta Sanjeev +4 more
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A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran [PDF]
Annals of HematologySideroblastic anemia (SA) is a rare hematological condition characterized by the accumulation of iron in the mitochondria of erythroid precursor cells, resulting in the formation of sideroblastic rings. It occurs in both inherited and acquired forms.
Elaheh Hasani +4 more
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Journal of Blood Medicine, 2020 Ghaith Abu-Zeinah, Maria T DeSancho Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USACorrespondence: Ghaith Abu-ZeinahWeill Cornell Medicine, New York Presbyterian ...
Maria T DeSancho, Ghaith Abu-Zeinah
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A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia [PDF]
Annals of HematologyBackground Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and
Zhi-Xiao Chen +6 more
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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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Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping [PDF]
Current Issues in Molecular BiologyMyopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the YARS2 gene (which encodes the Mt-TyrRS protein.
José Rafael Villafan-Bernal +11 more
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Severe Macrocytic Anemia Associated With a Novel <i>ALAS2</i> Mutation: A Case Report and Literature Review. [PDF]
Clin Case RepABSTRACT X‐linked sideroblastic anemia (XLSA), caused by pathogenic variants in ALAS2, typically presents as microcytic anemia in males. However, heterozygous females occasionally exhibit an atypical macrocytic phenotype, often leading to diagnostic ambiguity and confusion with nutritional anemias or myelodysplastic syndromes.
Cai H +5 more
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Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies. [PDF]
Br J HaematolGene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Joshi G +3 more
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