Results 11 to 20 of about 298,625 (226)
Recurrent sideroblastic anemia during pregnancy
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 +2 more sources
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 +2 more sources
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 +2 more sources
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 +3 more sources
A rare case of isoniazid induced sideroblastic anemia [PDF]
International Journal of Research in Medical Sciences, 2023 Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Chawla, Kunal +3 more
core +3 more sources
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis
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 +2 more sources
Clinical Case Reports, 2020 Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.
Ahsan Wahab +3 more
doaj +2 more sources
Journal of Blood Medicine, 2020 Ghaith Abu-Zeinah, Maria T DeSancho Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USACorrespondence: Ghaith Abu-ZeinahWeill Cornell Medicine, New York Presbyterian ...
Abu-Zeinah G, DeSancho MT
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Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants. [PDF]
Case Rep HematolVitamin B6 (VB6) is a vital coenzyme for δ‐aminolevulinic acid synthase (ALAS) in heme biosynthesis. We report a 49‐year‐old male with severe microcytic anemia and ringed sideroblasts initially diagnosed as myelodysplastic syndrome (MDS). VB6 deficiency, attributed to long‐term amoxapine use, was identified.
Nakao S +7 more
europepmc +2 more sources
X-Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report. [PDF]
EJHaemABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
O'Connor J +4 more
europepmc +2 more sources