Results 1 to 10 of about 130 (112)
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
doaj +5 more sources
Pathophysiology and Genetic Mutations in Congenital Sideroblastic Anemia [PDF]
Pediatrics International, 2013 AbstractSideroblastic anemias are heterogeneous congenital and acquired disorders characterized by anemia and the presence of ringed sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations of genes involved in heme biosynthesis, iron–sulfur [Fe‐S] cluster biosynthesis, and mitochondrial protein ...
Hideo Harigae
exaly +3 more sources
Congenital sideroblastic anemia: A report of two cases
Indian Journal of Pathology and Microbiology, 2009 Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked,
Gupta Sanjeev +4 more
doaj +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 +3 more sources
Congenital sideroblastic anemia in a child with biliary atresia: An association?
Pediatric Hematology Oncology Journal, 2023 Background: Congenital sideroblastic anemias (CSAs) are a rare inherited group of anemias. They are usually syndromic with neuromuscular and metabolic phenotypes.
Ashish S. Patil +2 more
doaj +2 more sources
Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation [PDF]
Hematology, 2011 AbstractThe congenital sideroblastic anemias (CSAs) are an uncommon, diverse class of inherited hematopoietic disorders characterized by pathological deposition of iron in the mitochondria of erythroid precursors. In recent years, the genetic causes of several clinically distinctive forms of CSA have been elucidated, which has revealed common themes in
Mark D Fleming
exaly +3 more sources
Clinical Case Reports, 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.
Min Hee Kim +3 more
doaj +3 more sources
A novel ALAS2 mutation causes congenital sideroblastic anemia
Mediterranean Journal of Hematology and Infectious Diseases, 2023 Kun Yang
doaj +3 more sources
Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia
New England Journal of Medicine, 2023 Ruben Van Dijck
exaly +4 more sources
A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia
Frontiers in PediatricsBackgroundCongenital sideroblastic anemia (CSA) constitutes a group of inherited erythropoietic disorders. Some affect mainly or exclusively erythroid cells; other syndromic forms occur within multisystem disorders with extensive nonhematopoietic ...
Jianling Cai +6 more
doaj +3 more sources