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About 349 results

ALLMedicine™ Sideroblastic Anemia Center

Research & Reviews  173 results

Biallelic IARS2 mutations presenting as sideroblastic anemia.
https://doi.org/10.3324/haematol.2020.270710
Haematologica Barcia G, Pandithan D et. al.

Dec 17th, 2020 - Not available.

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodis...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716369
Haematologica Andolfo I, Martone S et. al.

Dec 1st, 2020 - Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.|2020|Andolfo I,Martone S,Ribersani M,Bianchi S,Manna F,|

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.
https://doi.org/10.1002/pbc.28799
Pediatric Blood & Cancer REFERENCES; Nishimura A, Hirabayashi S et. al.

Nov 17th, 2020 - Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia...

Clinical characterization and hematopoietic stem cell transplant outcomes for congenita...
https://doi.org/10.1002/pbc.28623
Pediatric Blood & Cancer REFERENCES; Uminski K, Houston DS et. al.

Aug 13th, 2020 - Congenital sideroblastic anemia (CSA) constitutes an uncommon category of inherited anemia often associated with pathologic iron accumulation. Pathogenic variants in several genes have been identified as causative for CSA. Autosomal recessive path...

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital siderobla...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524500
The Journal of Clinical Investigation; Crispin A, Guo C et. al.

Jul 7th, 2020 - The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur (Fe-S) cluster biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial cochaperone, also known as HSC20 (heat shock cognate pr...

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Clinicaltrials.gov  175 results

Biallelic IARS2 mutations presenting as sideroblastic anemia.
https://doi.org/10.3324/haematol.2020.270710
Haematologica Barcia G, Pandithan D et. al.

Dec 17th, 2020 - Not available.

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodis...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716369
Haematologica Andolfo I, Martone S et. al.

Dec 1st, 2020 - Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.|2020|Andolfo I,Martone S,Ribersani M,Bianchi S,Manna F,|

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.
https://doi.org/10.1002/pbc.28799
Pediatric Blood & Cancer REFERENCES; Nishimura A, Hirabayashi S et. al.

Nov 17th, 2020 - Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia...

Clinical characterization and hematopoietic stem cell transplant outcomes for congenita...
https://doi.org/10.1002/pbc.28623
Pediatric Blood & Cancer REFERENCES; Uminski K, Houston DS et. al.

Aug 13th, 2020 - Congenital sideroblastic anemia (CSA) constitutes an uncommon category of inherited anemia often associated with pathologic iron accumulation. Pathogenic variants in several genes have been identified as causative for CSA. Autosomal recessive path...

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital siderobla...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524500
The Journal of Clinical Investigation; Crispin A, Guo C et. al.

Jul 7th, 2020 - The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur (Fe-S) cluster biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial cochaperone, also known as HSC20 (heat shock cognate pr...

see more →

News  1 results

Fast Five Quiz: Anemia
https://reference.staging.medscape.com/viewarticle/909145_4

Feb 19th, 2019 - The most important index is the MCV, on the basis of which anemias can be classified as microcytic, normocytic, or macrocytic, as follows: Microcytic anemias (usually defined as MCV < 80 fL) include anemias of chronic disease, iron deficiency, lea...

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