Results 21 to 30 of about 3,469 (181)
Severe isoniazid related sideroblastic anemia
Hematology Reports, 2011 Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment.
Rein Jan Piso +2 more
doaj +3 more sources
A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia [PDF]
Annals of HematologyBackground Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and
Zhi-Xiao Chen +6 more
doaj +2 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 +1 more source
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
doaj +2 more sources
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
doaj +2 more sources
A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj +1 more source
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
A novel ALAS2 mutation causes congenital sideroblastic anemia [PDF]
Mediterranean Journal of Hematology and Infectious Diseases, 2023 Kun Yang
doaj +2 more sources
Biallelic IARS2 mutations presenting as sideroblastic anemia [PDF]
Haematologica, 2020 Giulia Barcia +15 more
doaj +2 more sources