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Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
Clinical Pediatric Hematology-Oncology, 2022 We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe
Muhammad Matloob Alam +7 more
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A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations [PDF]
, 2013 Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein ...
Cleary, MA +5 more
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Differential diagnosis of iron deficiency [PDF]
, 2010 Iron deficiency is considered to be the commonest hematological pathology in humans. Thus, the essential steps in an adequate approach of iron deficiency include: the proper identification of its causes and the differentiation between iron deficiency and
Figueiredo, Maria Stella, Vicari, Perla
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Iron–sulfur clusters: from metals through mitochondria biogenesis to disease [PDF]
, 2018 Iron–sulfur clusters are ubiquitous inorganic co-factors that contribute to a wide range of cell pathways including the maintenance of DNA integrity, regulation of gene expression and protein translation, energy production, and antiviral response ...
Cardenas-Rodriguez, Mauricio +2 more
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Clinical studies on iron metabolism of erythroblasts in preleukemic stage [PDF]
, 1974 The appearance of sideroblasts in hypoplastic anemia (HAl and acute myelocytic leukemia (AML), together with their sideroblastograms, was studied. Hematological studies on cases with type III sideroblast dominance by sideroblastograms produced the ...
Kimura, Ikuro +2 more
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TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]
, 2016 BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK +14 more
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Diagnostics, 2022 Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard +4 more
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Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors [PDF]
, 2018 OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in ...
et al +3 more
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Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway [PDF]
, 2018 Iron-sulfur clusters are evolutionarily conserved biological structures which play an important role as cofactor for multiple enzymes in eukaryotic cells.
Van Coster, Rudy, Vanlander, Arnaud
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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
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