ArticleAmerican journal of hematology2014
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Article in American journal of hematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 52 citations in OpenAlex.
- A reversible feedback mechanism regulating mitochondrial heme synthesis.The Journal of biological chemistry · 2026Article
- A reversible feedback mechanism regulating mitochondrial heme synthesis.bioRxiv : the preprint server for biology · 2025Article
- X-Linked Sideroblastic Anaemia Caused by IntronicEJHaem · 2025Article
- Endogenous small molecule effectors in GATA transcription factor mechanisms governing biological and pathological processes.Experimental hematology · 2024Review
- Iron Metabolism in the Disorders of Heme Biosynthesis.Metabolites · 2022Review
- Heme as a differentiation-regulatory transcriptional cofactor.International journal of hematology · 2022Review
- Discovering How Heme Controls Genome Function Through Heme-omics.Cell reports · 2020Article
- GATA1 mutations in red cell disorders.IUBMB life · 2020Review
- A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.Frontiers in physiology · 2020Article
- Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options.Journal of blood medicine · 2020Review
- The genetics of human hematopoiesis and its disruption in disease.EMBO molecular medicine · 2019Review
- Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.Molecular and cellular biology · 2019Article
- The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.Frontiers in physiology · 2019Review
- Long non-coding RNA-dependent mechanism to regulate heme biosynthesis and erythrocyte development.Nature communications · 2018Article
- GATA/Heme Multi-omics Reveals a Trace Metal-Dependent Cellular Differentiation Mechanism.Developmental cell · 2018Article
- The molecular genetic background leading to the formation of the human erythroid-specific XgBlood advances · 2018Article
- Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.International journal of hematology · 2018Review
- Concise Review: Epigenetic Regulation of Hematopoiesis: Biological Insights and Therapeutic Applications.Stem cells translational medicine · 2017Review
- Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.Nucleic acids research · 2017Article
- [Advances in genes mutation and pathophysiology of congenital sideroblastic anemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 10 institutions in 5 countries.
Funding
Abstract
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene. As such, this study defines a new class of mutations that should be evaluated in patients undergoing genetic testing for a suspected diagnosis of XLSA.
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