Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study [PDF]
Frontiers in MedicineX-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Salam Al kindi +6 more
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Journal of Pathology of Nepal, 2016 Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and ...
P Bhandari, R Hamal, A Shrestha
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Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia. [PDF]
CureusSideroblastic anemia is characterized by anemia, granulocytopenia, and bone marrow findings of vacuolated precursors and ringed sideroblasts. Zinc-induced copper deficiency can present as sideroblastic anemia and neutropenia.
Stagg MP, Miatech J, Majid B, Polala R.
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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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Zinc‐induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess [PDF]
Clinical Case Reports, 2020 Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.
Ahsan Wahab +3 more
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Severe isoniazid related sideroblastic anemia [PDF]
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
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The molecular genetics of sideroblastic anemia. [PDF]
Blood, 2019 Abstract The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the SAs has ridden the wave of technology advancement.
Ducamp S, Fleming MD.
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Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features [PDF]
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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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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IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report. [PDF]
Front Pediatr, 2022 Background IARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) have ...
Gong Y, Lan XP, Guo S.
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