Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report [PDF]
BMC Medical GenomicsBackground Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications.
Shyam S. Kothari +5 more
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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
doaj +1 more source
Severe isoniazid related sideroblastic anemia [PDF]
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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Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review [PDF]
Frontiers in Pediatrics, 2023 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Xiangyuan Chen +4 more
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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia [PDF]
Haematologica, 2011 Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser +16 more
doaj +2 more sources
Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes [PDF]
J Clin Med, 2023 We report a case of severe anemia caused by complex hereditary spherocytosis (HS) and X-linked sideroblastic anemia (XLSA) with two mutations in the spectrin beta (SPTB) and 5-aminolevulinic acid synthase (ALAS2) genes. The proband was a 16-year-old male
Yao Qin +3 more
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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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Luspatercept Enhances Hemoglobin Levels in a Chinese Boy With Congenital Sideroblastic Anemia: A Case Report [PDF]
World J Clin CasesBACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Zhou, Kang +12 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
doaj +2 more sources
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
doaj +2 more sources