Results 11 to 20 of about 324,192 (243)

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 Medicine
X-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, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare   +6 more
doaj   +2 more sources

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

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, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng   +9 more
doaj   +2 more sources

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

Frontiers in 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.
Xinru Zhang, Anan Zhang, Jinmei Zhang, Dandan Hu   +3 more
doaj   +2 more sources

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis

Scientific Reports, 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.
Koya Ono, Tohru Fujiwara, Kei Saito, Hironari Nishizawa, Noriyuki Takahashi, Chie Suzuki, Tetsuro Ochi, Hiroki Kato, Yusho Ishii, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Rie Yamada, Yukio Nakamura, Kazuhiko Igarashi, Hideo Harigae   +17 more
doaj   +2 more sources

Sideroblastic anemia [PDF]

Definitions, 2020
Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels ...
semanticscholar   +3 more sources

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

Annals of Hematology
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
Zhi-Xiao Chen, Li-Ye Yang, Liang-Tuo Wang, Bao-Ying Chen, Jian-Lian Liang, Li-Li Liu, Xiao-Hua Yu   +6 more
doaj   +2 more sources

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia. [PDF]

Cureus
Sideroblastic 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.
europepmc   +2 more sources

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model. [PDF]

Int J Mol Sci
Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists.
Santoro A, De Santis S, Palmieri F, Vozza A, Agrimi G, Andolfo I, Russo R, Palazzo A, Storlazzi CT, Ferrucci A, Jun YW, Kool ET, Fiermonte G, Iolascon A, Paradies E, Marobbio CMT, Palmieri L.   +16 more
europepmc   +2 more sources

Luspatercept enhances hemoglobin levels in a Chinese boy with congenital sideroblastic anemia: A case report. [PDF]

World J Clin Cases
BACKGROUND Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Li Y, Ye L, Zhou K, Fan HH, Li JP, Xiong YZ, Yang Y, Peng GX, Yang WR, Zhao X, Jing LP, Zhang L, Zhang FK.   +12 more
europepmc   +2 more sources

Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping [PDF]

Current Issues in Molecular Biology
Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the YARS2 gene (which encodes the Mt-TyrRS protein.
José Rafael Villafan-Bernal, Angélica Martínez-Hernández, Humberto García-Ortiz, Cecilia Contreras-Cubas, Israel Guerrero-Contreras, José Luis Frías-Cabrera, Federico Centeno-Cruz, Monserrat Ivonne Morales Rivera, Jhonatan Rosas Hernández, Alessandra Carnevale, Francisco Barajas-Olmos, Lorena Orozco   +11 more
doaj   +2 more sources