Journal of Pathology of Nepal, 2016 Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and ...
P Bhandari, R Hamal, A Shrestha
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A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man [PDF]
BMC Medical Genomics, 2021 Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2).
Jinbo Huang +9 more
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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study [PDF]
Frontiers in MedicineX-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Salam Al kindi +6 more
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A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION
Hematology, Transfusion and Cell Therapy, 2021 Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency ...
Fatma Tuba YILDIRIM +3 more
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Drug-induced severe sideroblastic anemia following combined olanzapine and fluvoxamine therapy: a case report [PDF]
Frontiers in PsychiatryOlanzapine and fluvoxamine are commonly used psychotropic medications for treating anxiety and depressive disorders, particularly in cases with psychotic symptoms or treatment-resistant presentations.
Xinru Zhang +3 more
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Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis [PDF]
Scientific Reports, 2022 X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Koya Ono +17 more
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Zinc‐induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess [PDF]
Clinical Case Reports, 2020 Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.
Ahsan Wahab +3 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.
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Haematologica, 2014 Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko +6 more
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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up [PDF]
Molecular Genetics and Metabolism Reports, 2019 Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
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