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ALLMedicine™ Sideroblastic Anemia Center

Research & Reviews  175 results

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048311
BMC Medical Genomics; Huang J, Ge M et. al.

Apr 16th, 2021 - 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). The genetic basis of more than 40% of CSA cases remains unknow...

Biallelic IARS2 mutations presenting as sideroblastic anemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018106
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,|genetics,genetics,genetics,

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...

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Clinicaltrials.gov  177 results

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048311
BMC Medical Genomics; Huang J, Ge M et. al.

Apr 16th, 2021 - 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). The genetic basis of more than 40% of CSA cases remains unknow...

Biallelic IARS2 mutations presenting as sideroblastic anemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018106
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,|genetics,genetics,genetics,

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...

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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