Results 1 to 10 of about 781 (92)

The Role of Genetic Testing in Accurate Diagnosis of X-Linked Sideroblastic Anemia: Novel ALAS2 Mutations and the Impact of X-Chromosome Inactivation

Scientific Reports
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.
Aneal Khan, Cristian Tornador, Veronica Venturi   +2 more
exaly   +3 more sources

ALAS2 Prevents Neonatal Necrotizing Enterocolitis by Improving Ferroptosis in Intestinal Epithelial Cells Through Inhibition of Oxidative Stress

Mediators of Inflammation
Neonatal necrotizing enterocolitis (NEC) is an intestinal disease that occurs in the neonatal period. The purpose of this study was to investigate the role of 5′-aminolevulinate synthase 2 (ALAS2) in NEC-induced intestinal injury.
Wei Fan, Zenghui Hao, Han Jinbao
exaly   +3 more sources

Molecular Expression, Characterization and Mechanism of ALAS2 Gain-of-Function Mutants

Molecular Medicine, 2019
Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2).
Robert J. Desnick, David F Bishop
exaly   +5 more sources

X-Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report

EJHaem
X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular ...
Aaron Niblock, James O'Connor, Kerrie Sweeney   +2 more
exaly   +3 more sources

A Novel and Apparent De Novo ALAS2 Missense Variant Associated With Congenital Sideroblastic Anemia

Frontiers in Pediatrics
BackgroundCongenital sideroblastic anemia (CSA) constitutes a group of inherited erythropoietic disorders. Some affect mainly or exclusively erythroid cells; other syndromic forms occur within multisystem disorders with extensive nonhematopoietic ...
Dongqing Zhang
exaly   +4 more sources

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

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 Salim Amur Alkindi, Anil V Pathare, Shoaib Al-Zadjali   +2 more
exaly   +4 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

Muscle atrophy induced by overexpression of ALAS2 is related to muscle mitochondrial dysfunction

Skeletal Muscle, 2021
Background ALAS2 (delta-aminolevulinate synthase 2) is one of the two isoenzymes catalyzing the synthesis of delta-aminolevulinic acid (ALA), which is the first precursor of heme synthesis.
Yahui Peng, Jihong Li, Dixian Luo, Shuai Zhang, Sijia Li, Dayong Wang, Xidi Wang, Zhujun Zhang, Xue Wang, Changhui Sun, Xu Gao, Yang Hui, Rongzhang He   +12 more
doaj   +3 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

Severe Macrocytic Anemia Associated With a Novel ALAS2 Mutation: A Case Report and Literature Review

Clinical Case Reports
X‐linked sideroblastic anemia (XLSA), caused by pathogenic variants in ALAS2, typically presents as microcytic anemia in males. However, heterozygous females occasionally exhibit an atypical macrocytic phenotype, often leading to diagnostic ambiguity and
Haodong Cai, Kefeng Shen, Jin Wang, Jia Gu, Meilan Zhang, Min Xiao   +5 more
doaj   +2 more sources