Research & Literature

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

Malcovati L, Karimi M, Papaemmanuil E, et al.

Blood 2015; (126(2)):233-41 doi:10.1182/blood-2015-03-633537.

Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.

Liu G, Wang Y, Anderson GJ, et al.

Journal of cellular biochemistry 2016; (117(1)):207-17 doi:10.1002/jcb.25267.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, et al.

Neurogenetics 2016; (17(1)):65-70 doi:10.1007/s10048-015-0465-x.

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Cazzola M, Malcovati L

Hematology. American Society of Hematology. Education Program 2015; (2015()):19-25 doi:10.1182/asheducation-2015.1.19.

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

Fernández-Murray JP, Prykhozhij SV, Dufay JN, et al.

PLoS genetics 2016; (12(1)):e1005783 doi:10.1371/journal.pgen.1005783.

Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.

LeBlanc MA, Bettle A, Berman JN, et al.

Pediatric blood & cancer 2016; (63(7)):1307-9 doi:10.1002/pbc.25981.

Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.

Lunetti P, Damiano F, De Benedetto G, et al.

The Journal of biological chemistry 2016; (291(38)):19746-59 doi:10.1074/jbc.M116.736876.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Sommerville EW, Ng YS, Alston CL, et al.

JAMA neurology 2017; (74(6)):686-694 doi:10.1001/jamaneurol.2016.4357.

Biology of sideroblastic anemia.

Harigae H

[Rinsho ketsueki] The Japanese journal of clinical hematology 2017; (58(4)):347-352 doi:10.11406/rinketsu.58.347.

Renal manifestations of primary mitochondrial disorders.

Finsterer J, Scorza FA

Biomedical reports 2017; (6(5)):487-494 doi:10.3892/br.2017.892.

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Le Rouzic MA, Fouquet C, Leblanc T, et al.

Blood cells, molecules & diseases 2017; (66()):11-18 doi:10.1016/j.bcmd.2017.07.003.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou A, Wang H, Zhou Q, et al.

Annals of the rheumatic diseases 2018; (77(4)):612-619 doi:10.1136/annrheumdis-2017-212401.

Establishment of a cell model of X-linked sideroblastic anemia using genome editing.

Kaneko K, Kubota Y, Nomura K, et al.

Experimental hematology 2018; (65()):57-68.e2 doi:10.1016/j.exphem.2018.06.002.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, et al.

Haematologica 2018; (103(12)):2008-2015 doi:10.3324/haematol.2017.182659.

Pathophysiology and classification of iron overload diseases; update 2018.

Brissot P, Troadec MB, Loréal O, Brissot E

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2019; (26(1)):80-88 doi:10.1016/j.tracli.2018.08.006.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Tesarova M, Vondrackova A, Stufkova H, et al.

Pediatric blood & cancer 2019; (66(4)):e27591 doi:10.1002/pbc.27591.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Daher R, Mansouri A, Martelli A, et al.

Molecular genetics and metabolism 2019; (128(3)):342-351 doi:10.1016/j.ymgme.2018.12.012.

Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia.

Imataki O, Uchida S, Uemura M, Kadowaki N

Pediatric hematology and oncology 2019; (36(1)):46-51 doi:10.1080/08880018.2019.1578844.

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

Woods J, Cederbaum S

Molecular genetics and metabolism reports 2019; (21()):100517 doi:10.1016/j.ymgmr.2019.100517.

Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.

Kuo ME, Antonellis A

Trends in genetics : TIG 2020; (36(2)):105-117 doi:10.1016/j.tig.2019.11.007.

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Riley LG, Rudinger-Thirion J, Frugier M, et al.

Human mutation 2020; (41(8)):1425-1434 doi:10.1002/humu.24050.

Peripheral Blood and Bone Marrow Findings in Chronic Alcoholics with Special Reference to Acquired Sideroblastic Anemia.

Mangla G, Garg N, Bansal D, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2020; (36(3)):559-564 doi:10.1007/s12288-019-01188-5.

Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.

Uminski K, Houston DS, Hartley JN, et al.

Pediatric blood & cancer 2020; (67(10)):e28623 doi:10.1002/pbc.28623.

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

Wahab A, Mushtaq K, Borak SG, Bellam N

Clinical case reports 2020; (8(9)):1666-1671 doi:10.1002/ccr3.2987.

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

Abu-Zeinah G, DeSancho MT

Journal of blood medicine 2020; (11()):305-318 doi:10.2147/JBM.S232644.

Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.

Bardou MLD, Rivitti-Machado MC, Michalany NS, et al.

The Australasian journal of dermatology 2021; (62(2)):e276-e279 doi:10.1111/ajd.13527.

Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone.

Diepeveen L, Roelofs R, Grebenchtchikov N, et al.

PloS one 2021; (16(7)):e0254851 doi:10.1371/journal.pone.0254851.

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Heeney MM, Berhe S, Campagna DR, et al.

Human mutation 2021; (42(11)):1367-1383 doi:10.1002/humu.24267.

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.

Carreño-Gago L, Juárez-Flores DL, Grau JM, et al.

Journal of clinical medicine 2021; (10(16)) doi:10.3390/jcm10163471.

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

Odom J, Amin H, Gijavanekar C, et al.

American journal of medical genetics. Part A 2022; (188(1)):259-268 doi:10.1002/ajmg.a.62482.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Sankaran BP, Gupta S, Tchan M, et al.

Orphanet journal of rare diseases 2021; (16(1)):465 doi:10.1186/s13023-021-02073-z.

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia.

Sayad E, Hammoud M, Khreis D, et al.

Respiratory medicine case reports 2021; (34()):101543 doi:10.1016/j.rmcr.2021.101543.

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Rudaks LI, Watson E, Oboudiyat C, et al.

American journal of medical genetics. Part A 2022; (188(7)):2226-2230 doi:10.1002/ajmg.a.62755.

Unstable hemoglobin Montreal II uncovered in an adult with unexplained hemolysis exacerbated by a presumed viral infection: a case report.

Medri C, Méndez A, Hammerer-Lercher A, et al.

Journal of medical case reports 2022; (16(1)):145 doi:10.1186/s13256-022-03374-y.

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms.

Girard S, Genevieve F, Rault E, et al.

Diagnostics (Basel, Switzerland) 2022; (12(7)) doi:10.3390/diagnostics12071752.

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Kisla Ekinci RM, Zararsiz A, Demir GU, Anlas O

Pediatric allergy, immunology, and pulmonology 2022; (35(3)):129-132 doi:10.1089/ped.2022.0090.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

Genes 2022; (13(9)) doi:10.3390/genes13091562.

Transient Sideroblastic Anemia Post-COVID-19 Infection.

Mukhi N, Soto LR, Vuppala A

Cureus 2022; (14(10)):e30275 doi:10.7759/cureus.30275.

Recurrent sideroblastic anemia during pregnancy.

Mohamed S, Ibrahim F, Alasafar MN, et al.

Clinical case reports 2023; (11(1)):e6814 doi:10.1002/ccr3.6814.

Understanding the Association between Red Blood Cell Transfusion Utilization and Humanistic and Economic Burden in Patients with β-Thalassemia from the Patients' Perspective.

Knoth RL, Gupta S, Perkowski K, et al.

Journal of clinical medicine 2023; (12(2)) doi:10.3390/jcm12020414.

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).

Li Y, Deng M, Han T, et al.

Journal of clinical immunology 2023; (43(4)):780-793 doi:10.1007/s10875-023-01441-7.

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

Salam MAE, Salama K, Selim YMM, et al.

Annals of human genetics 2023; (87(4)):166-173 doi:10.1111/ahg.12505.

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.

Nugent D, Acharya SS, Baumann KJ, et al.

Expert review of hematology 2023; (16(sup1)):55-70 doi:10.1080/17474086.2023.2175661.

Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports.

Shao Y, He L, Ding S, Fu R

Current research in translational medicine 2024; (72(1)):103438 doi:10.1016/j.retram.2024.103438.

Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.

Sharma P, Bhatia P, Singh M, et al.

The Journal of molecular diagnostics : JMD 2024; (26(5)):430-444 doi:10.1016/j.jmoldx.2024.01.011.

Health-Related Quality-of-Life Impacts Associated with Transfusion-Dependent β-Thalassemia in the USA and UK: A Qualitative Assessment.

Drahos J, Boateng-Kuffour A, Calvert M, et al.

The patient 2024; (17(4)):421-439 doi:10.1007/s40271-024-00678-7.

Hematologic Manifestations in Primary Mitochondrial Diseases.

Selvanathan A, Teo J, Parayil Sankaran B

Journal of pediatric hematology/oncology 2024; (46(5)):e338-e347 doi:10.1097/MPH.0000000000002890.

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

Li Y, Ye L, Zhou K, et al.

World journal of clinical cases 2024; (12(19)):3978-3984 doi:10.12998/wjcc.v12.i19.3978.

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia.

Cai J, Liu T, Huang Y, et al.

Frontiers in pediatrics 2024; (12()):1411676 doi:10.3389/fped.2024.1411676.

An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.

Castruccio Castracani C, Breda L, Papp TE, et al.

Blood 2025; (145(1)):98-113 doi:10.1182/blood.2024025846.

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

Santoro A, De Santis S, Palmieri F, et al.

International journal of molecular sciences 2024; (25(24)) doi:10.3390/ijms252413314.

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.

Al Kindi S, Al-Mamari A, Al-Zadjali S, et al.

Frontiers in medicine 2024; (11()):1452873 doi:10.3389/fmed.2024.1452873.

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Rekaya S, Ben Fraj I, Hamdi R, et al.

Annals of hematology 2025; (104(4)):2537-2543 doi:10.1007/s00277-025-06266-5.

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

Eisenkölbl A, Lochmüller H, Carter MT, et al.

Journal of neuromuscular diseases 2026; (13(4)):802-807 doi:10.1177/22143602251369227.

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Ferrera G, Segre G, Lamantea E, et al.

Frontiers in pediatrics 2025; (13()):1699348 doi:10.3389/fped.2025.1699348.

Diagnostic pitfalls of ESA-resistant anemia due to functional copper deficiency in a dialysis patient: a myelodysplastic syndrome mimic.

Ikegishi Y, Abe R, Maehata A, Takiyama Y

CEN case reports 2026; (15(1)):37 doi:10.1007/s13730-025-01042-w.

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

Villafan-Bernal JR, Martínez-Hernández A, García-Ortiz H, et al.

Current issues in molecular biology 2026; (48(1)) doi:10.3390/cimb48010095.

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

Hasani E, Naghinejad M, Kohkalani M, et al.

Annals of hematology 2026; (105(4)):128.

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.

Su TH, Lee NC, Wang LC, et al.

Journal of clinical immunology 2026; (46(1)).

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.

Delle Cave F, Taietti I, Agostini A, et al.

Frontiers in immunology 2026; (17()):1876025 doi:10.3389/fimmu.2026.1876025.