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Sideroblastic Anemia 

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  1. Open Access 02-02-2023 | Immunodeficiency | OriginalPaper

    Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)

    Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1) [ 1 ]. TRNT1 is an important enzyme …

  2. 01-02-2020 | Erythropoietin | Letter

    Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

  3. 01-07-2020 | Macrocytic Anemia | BriefCommunication

    Peripheral Blood and Bone Marrow Findings in Chronic Alcoholics with Special Reference to Acquired Sideroblastic Anemia

    Anemia associated with alcoholism has numerous causes, most common being megaloblastic anemia and acquired sideroblastic anemia (SA). The bone marrow aspirate (BMA) and bone marrow iron (BMIr) findings and their correlation with peripheral blood …

  4. 01-01-2018 | ReviewPaper

    Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia

    Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient’s bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes …

  5. 01-06-2016 | OriginalPaper

    A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia

    X-linked sideroblastic anemia (XLSA) is a rare hereditary disorder that typically manifests in males as microcytic anemia. Here, we report a family with XLSA that affects females and manifests as macrocytic anemia. The proband was a Japanese woman …

  6. 01-11-2017 | Letter

    A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review

  7. Open Access 01-12-2015 | Report

    Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing

  8. 01-10-2010 | ReviewPaper

    Hereditary sideroblastic anemia: pathophysiology and gene mutations

    Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Ring sideroblasts are erythroblasts characterized by iron accumulation in perinuclear mitochondria due to impaired iron utilization. There …

  9. 01-04-1997 | OriginalPaper

    Primary acquired sideroblastic anemia, thrombocytosis, and trisomy 8

     Myelodysplastic syndromes are usually associated with pancytopenia. Disorders involving deletion of the long arm of chromosome 5 (5q- syndrome) and, rarely, patients with karyotypic abnormalities involving chromosome 3 associated with abnormal …

  10. Open Access 01-01-2013 | OriginalPaper

    Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)

    Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, i.e., congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia. In order to …

  11. Open Access 01-12-2024 | Sideroblastic Anemia | ReviewPaper

    Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

    Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging …

  12. 01-04-2024 | Sideroblastic Anemia | News

    Deferasirox

    Drug-induced ileocolitis
  13. Open Access 01-12-2023 | OriginalPaper

    Harnessing large language models (LLMs) for candidate gene prioritization and selection

    Systems-scale profiling technologies are unbiased, simultaneously measuring all analytes in a biological system. Transcriptomics, for instance, uses RNA-sequencing to simultaneously quantify tens of thousands of RNA species [ 1 , 2 ]. The …

  14. Open Access 23-03-2024 | Thalassemia | OriginalPaper

    Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia

    Hemoglobinopathies are genetic disorders of hemoglobin (Hb) and include structural hemoglobinopathies and thalassemia syndromes. Globally, 400,000 newborns are affected annually by clinically significant hemoglobinopathy. Of these, approximately …

  15. 19-02-2024 | Myelodysplastic Syndrome | OriginalPaper

    Measurement of serum hepcidin-25 by latex agglutination in healthy volunteers and patients with hematologic disorders

    Iron is an essential trace metal, vital for various physiologic processes, but excess levels can harm health. Maintaining iron homeostasis is critical, with hepcidin playing a key role. The isoform hepcidin-25 exerts the most significant influence …

  16. Genetics of Mitochondrial Cardiomyopathy

    Myocytes heavily rely on mitochondria for bioenergetic demands and energy consumption. Defects in mitochondrial function, therefore, impact the physiological functioning of myocytes. Primary mitochondrial disorders are due to pathogenic variants …

  17. 28-09-2023 | Immunodeficiency | OriginalPaper

    Antibody Deficiency in Patients with Biallelic KARS1 Mutations

    Biallelic KARS1 mutations cause KARS-related diseases, a rare syndromic condition encompassing central and peripheral nervous system impairment, heart and liver disease, and deafness. KARS1 encodes the t-RNA synthase of lysine, an aminoacyl-tRNA …

  18. Open Access 17-01-2024 | Vitamin B12 Deficiency | Online First

    Efficacy of different routes of vitamin B12 supplementation for the treatment of patients with vitamin B12 deficiency: A systematic review and network meta-analysis

    Vitamin B12 is a water-soluble vitamin that may be derived from foods, including fish, meat, dairy products, and cereals that have been fortified. It can also be taken in supplement form. After being extracted by gastric acid, it travels to the …

  19. 27-05-2022 | Erythropoietin | ReviewPaper

    The mutual crosstalk between iron and erythropoiesis

    Iron homeostasis and erythropoiesis are strongly interconnected. On one side iron is essential to terminal erythropoiesis for hemoglobin production, on the other erythropoiesis may increase iron absorption through the production of erythroferrone …

  20. Open Access 01-12-2024 | Lennox Gastaut Syndrome | OriginalPaper

    Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

    RARS2 (MIM*611524, NM_020320.5) is a nuclear gene that encodes the mitochondrial arginyl-transfer RNA synthetase 2, an aminoacyl-tRNA synthetase (aaRS), which charges human mitochondrial tRNA with arginine during the translation of mitochondrial …

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