Results 21 to 30 of about 5,388 (203)
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia. [PDF]
Clin Case Rep, 2018 Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Kim MH, Shah S, Bottomley SS, Shah NC.
europepmc +2 more sources
A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia. [PDF]
Mediterr J Hematol Infect Dis, 2023 Ding Y +5 more
europepmc +2 more sources
[Rinsho ketsueki] The Japanese journal of clinical hematology, 2019 Sideroblastic anemia (SA) signifies a group of heterogeneous congenital and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital SA is a rare disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biosynthesis, and mitochondrial protein synthesis.
Özden Vural
openaire +3 more sources
Biallelic IARS2 mutations presenting as sideroblastic anemia. [PDF]
Haematologica, 2021 Barcia G +15 more
europepmc +2 more sources
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
doaj +1 more source
Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease
Annals of Internal Medicine: Clinical Cases, 2023 D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
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Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. [PDF]
PLoS Genetics, 2016 Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors.
J Pedro Fernández-Murray +10 more
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A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]
, 2017 NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico +21 more
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Preleukemia: hematological disorders prior to onset of leukemia [PDF]
, 1975 Published data on Japanese leukemia patients with a preleukemic hematological disorder were assessed. The reexamined cases were from the "Japona Centra Revuo Medicina" reported during the period from 1952 to 1971.
Hiraki, Kiyoshi +5 more
core +1 more source