Results 11 to 20 of about 5,388 (203)

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options. [PDF]

J Blood Med, 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.
europepmc   +2 more sources

Drug-induced severe sideroblastic anemia following combined olanzapine and fluvoxamine therapy: a case report. [PDF]

Front Psychiatry
Olanzapine and fluvoxamine are commonly used psychotropic medications for treating anxiety and depressive disorders, particularly in cases with psychotic symptoms or treatment-resistant presentations.
Zhang X, Zhang A, Zhang J, Hu D.
europepmc   +2 more sources

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man. [PDF]

BMC Med 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).
Huang J, Ge M, Shao Y, Wang M, Jin P, Huo J, Li X, Zhang J, Nie N, Zheng Y.   +9 more
europepmc   +2 more sources

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran. [PDF]

Ann Hematol
Sideroblastic anemia (SA) is a rare hematological condition characterized by the accumulation of iron in the mitochondria of erythroid precursor cells, resulting in the formation of sideroblastic rings. It occurs in both inherited and acquired forms.
Hasani E, Naghinejad M, Kohkalani M, Mansoori Derakhshan S, Shekari Khaniani M.   +4 more
europepmc   +2 more sources

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis. [PDF]

Sci Rep, 2022
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Ono K, Fujiwara T, Saito K, Nishizawa H, Takahashi N, Suzuki C, Ochi T, Kato H, Ishii Y, Onodera K, Ichikawa S, Fukuhara N, Onishi Y, Yokoyama H, Yamada R, Nakamura Y, Igarashi K, Harigae H.   +17 more
europepmc   +2 more sources

Zinc-induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess. [PDF]

Clin Case Rep, 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.
Wahab A, Mushtaq K, Borak SG, Bellam N.
europepmc   +2 more sources

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up. [PDF]

Mol Genet Metab Rep, 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
Woods J, Cederbaum S.
europepmc   +2 more sources

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia. [PDF]

Ann Hematol
Background 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
Chen ZX, Yang LY, Wang LT, Chen BY, Liang JL, Liu LL, Yu XH.   +6 more
europepmc   +2 more sources

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation. [PDF]

Sci Rep
X-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.
Jové-Solavera D, Rámila M, Ferrer-Cortés X, Olivella M, Venturi V, Morado M, Hernández-Rodríguez I, Khan A, Pérez-Montero S, Tornador C, Germing U, Gattermann N, Sanchez M.   +12 more
europepmc   +2 more sources

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. While haemoglobin fell to 47 g/L and erythrocyte count to 1.5 G/L, reticulocytes were very low (reticulocyte production index of 0.48), but ...
Rein Jan Piso, Kveti Kriz, Marie-Claire Desax   +2 more
openaire   +5 more sources