Acquired Sideroblastic Anemia: An exploratory Comparative Statistical Analysis Between Clonal and Non-clonal cases [PDF]
Mediterranean Journal of Hematology and Infectious Diseases, 2022 Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic ...
Dina Sameh Soliman +8 more
doaj +6 more sources
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
doaj +4 more sources
Dolutegravir‐induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication [PDF]
Clinical Case Reports, 2023 Key Clinical Message Dolutegravir, the most recent antiretroviral drug with high efficacy, good tolerability, infrequent drug–drug interactions, and a favorable safety profile has not been reported in current literature as a cause of acquired ...
Kiran Dhonju +9 more
doaj +3 more sources
Recurrent sideroblastic anemia during pregnancy [PDF]
Clinical Case Reports, 2023 Sideroblastic anemia is a heterogeneous group of disorders typified by the presence of ring sideroblasts in the bone marrow and has congenital and acquired types. Sideroblastic anemia is a rare event in pregnancy. We report a case of a 32‐year‐old female
Shehab Mohamed +9 more
doaj +3 more sources
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
doaj +3 more sources
The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review [PDF]
Frontiers in Pediatrics, 2021 X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide.
Shiqiu Xiong +11 more
doaj +3 more sources
Causes and Pathophysiology of Acquired Sideroblastic Anemia. [PDF]
Genes (Basel), 2022 The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow. Ring sideroblasts are abnormal erythroblasts with iron-loaded mitochondria that are visualized by Prussian blue staining as a perinuclear ring of green-blue granules.
Rodriguez-Sevilla JJ +2 more
europepmc +5 more sources
Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia [PDF]
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
doaj +3 more sources
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
doaj +4 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 +3 more sources