Results 21 to 30 of about 3,045 (154)
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation [PDF]
Scientific ReportsX-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Daniel Jové-Solavera +12 more
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Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options [PDF]
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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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up [PDF]
Molecular Genetics and Metabolism Reports, 2019 Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
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A novel ALAS2 mutation causes congenital sideroblastic anemia [PDF]
Mediterranean Journal of Hematology and Infectious Diseases, 2023 Kun Yang
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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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Biallelic IARS2 mutations presenting as sideroblastic anemia [PDF]
Haematologica, 2020 Giulia Barcia +15 more
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Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
Clinical Pediatric Hematology-Oncology, 2022 We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe
Muhammad Matloob Alam +7 more
doaj +1 more source
Ring sideroblasts and sideroblastic anemias
Haematologica, 2011 The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire +3 more sources
Haematologica, 2011 Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser +16 more
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Diagnostics, 2022 Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard +4 more
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