Results 21 to 30 of about 3,045 (166)
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
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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
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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
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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
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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
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Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis. [PDF]
HemasphereAbstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
El Hoss S +3 more
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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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SAGE Open Medical Case Reports, 2019 This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri +5 more
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