Research & Literature

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Sasarman F, Thiffault I, Weraarpachai W, et al.

Human molecular genetics 2015; (24(10)):2841-7 doi:10.1093/hmg/ddv044.

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.

An W, Zhang J, Chang L, et al.

Journal of hematology & oncology 2015; (8()):55 doi:10.1186/s13045-015-0154-0.

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.

Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

Ling G, Pinsk V, Golan-Tripto I, Ling E

Hematology reports 2015; (7(3)):5987 doi:10.4081/hr.2015.5987.

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.

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.

Ringed sideroblasts in β-thalassemia.

Cattivelli K, Campagna DR, Schmitz-Abe K, et al.

Pediatric blood & cancer 2017; (64(5)) doi:10.1002/pbc.26324.

Post-mortem study of the association between cardiac iron and fibrosis in transfusion dependent anaemia.

Kirk P, Sheppard M, Carpenter JP, et al.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2017; (19(1)):36 doi:10.1186/s12968-017-0349-3.

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.

Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload.

Ruefer A, Bapst C, Benz R, et al.

Swiss medical weekly 2017; (147()):w14550.

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.

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

Mehri M, Zarin M, Ardalani F, et al.

Blood cells, molecules & diseases 2018; (71()):39-44 doi:10.1016/j.bcmd.2018.02.002.

Relationship between T2* magnetic resonance imaging-derived liver and heart iron content and serum ferritin levels in transfusion-dependent thalassemic children.

Suthar K, Goyal VK, Sharma P, et al.

Asian journal of transfusion science 2018; (12(1)):69-74 doi:10.4103/ajts.AJTS_3_17.

Quality of Life (QoL) and the Factors Affecting it in Transfusion-dependent Thalassemic Children.

Chordiya K, Katewa V, Sharma P, et al.

Indian journal of pediatrics 2018; (85(11)):978-983 doi:10.1007/s12098-018-2697-x.

Rare anemias due to genetic iron metabolism defects.

Brissot P, Bernard DG, Brissot E, et al.

Mutation research. Reviews in mutation research 2018; (777()):52-63 doi:10.1016/j.mrrev.2018.06.003.

Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia.

Kim MH, Shah S, Bottomley SS, Shah NC

Clinical case reports 2018; (6(9)):1841-1844 doi:10.1002/ccr3.1667.

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

Peoc'h K, Nicolas G, Schmitt C, et al.

Molecular genetics and metabolism 2019; (128(3)):190-197 doi:10.1016/j.ymgme.2019.01.015.

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.

Cardiac involvement in beta-thalassaemia: current treatment strategies.

Paul A, Thomson VS, Refat M, et al.

Postgraduate medicine 2019; (131(4)):261-267 doi:10.1080/00325481.2019.1608071.

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

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

British journal of haematology 2019; (187(4)):530-542 doi:10.1111/bjh.16100.

[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

An WB, An WB, Liu C, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(10)):1016-1021.

Cardiac and hepatic siderosis in myelodysplastic syndrome, thalassemia and diverse causes of transfusion-dependent anemia: the TIMES study.

Ho PJ, Hiwase D, Ramakrishna R, et al.

HemaSphere 2019; (3(3)):e224 doi:10.1097/HS9.0000000000000224.

A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.

Oncul U, Unal-Ince E, Kuloglu Z, et al.

Journal of pediatric hematology/oncology 2021; (43(4)):e592-e595 doi:10.1097/MPH.0000000000001806.

Health-related quality of life among children with transfusion-dependent thalassemia: A cross-sectional study in Malaysia.

Shafie AA, Chhabra IK, Wong JHY, et al.

Health and quality of life outcomes 2020; (18(1)):141 doi:10.1186/s12955-020-01381-5.

Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.

Steinberg-Shemer O, Tamary H

Molecular diagnosis & therapy 2020; (24(4)):397-407 doi:10.1007/s40291-020-00478-3.

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.

Ravindra N, Athiyarath R, S E, et al.

Journal of clinical pathology 2021; (74(3)):157-162 doi:10.1136/jclinpath-2020-206647.

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.

Crispin A, Guo C, Chen C, et al.

The Journal of clinical investigation 2020; (130(10)):5245-5256.

Early detection of ventricular dysfunction by tissue Doppler echocardiography related to cardiac iron overload in patients with thalassemia.

Silvilairat S, Charoenkwan P, Saekho S, et al.

The international journal of cardiovascular imaging 2021; (37(1)):91-98 doi:10.1007/s10554-020-01949-8.

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.

Mitochondrial [4Fe-4S] protein assembly involves reductive [2Fe-2S] cluster fusion on ISCA1-ISCA2 by electron flow from ferredoxin FDX2.

Weiler BD, Brück MC, Kothe I, et al.

Proceedings of the National Academy of Sciences of the United States of America 2020; (117(34)):20555-20565 doi:10.1073/pnas.2003982117.

Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I.

Asleh M, Levitas A, Daniel S, et al.

Annals of hematology 2020; (99(11)):2507-2512 doi:10.1007/s00277-020-04263-4.

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.

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.

Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support.

Kolemen AB, Akyuz E, Toprak A, et al.

Orphanet journal of rare diseases 2021; (16(1)):402 doi:10.1186/s13023-021-02046-2.

Busulfan-fludarabine- or treosulfan-fludarabine-based myeloablative conditioning for children with thalassemia major.

Lüftinger R, Zubarovskaya N, Galimard JE, et al.

Annals of hematology 2022; (101(3)):655-665 doi:10.1007/s00277-021-04732-4.

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.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

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

IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.

Gong Y, Lan XP, Guo S

Frontiers in pediatrics 2022; (10()):1080664 doi:10.3389/fped.2022.1080664.

Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.

Shamsian BS, Jafari MR, Abolghasemi H, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2023; (21(1)):70-75 doi:10.6002/ect.2022.0081.

Psychiatric disorders and caregiver burden in children with transfusion dependent β-thalassaemia and their caregivers.

Sahu S, Agrawal A, Shrivastava J, Tonk S

World journal of clinical pediatrics 2023; (12(3)):125-132 doi:10.5409/wjcp.v12.i3.125.

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.

Mitochondrial tRNA pseudouridylation governs erythropoiesis.

Wang B, Shi D, Yang S, et al.

Blood 2024; (144(6)):657-671 doi:10.1182/blood.2023022004.

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.

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.

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.

Ammar M, Kmiha S, Maalej M, et al.

Annals of hematology 2025; (104(2)):943-952 doi:10.1007/s00277-025-06259-4.

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing.

Wen T, Boyden SE, Hocutt CM, et al.

Blood advances 2025; (9(10)):2443-2452 doi:10.1182/bloodadvances.2024015347.

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.

Clinical Outcomes Among Patients With Sickle Cell Disease and Transfusion-Dependent Beta-Thalassemia Treated With Allogeneic Hematopoietic Stem Cell Transplantation: A Systematic Literature Review.

Nair R, Li N, Imren S, et al.

Journal of blood medicine 2025; (16()):135-150 doi:10.2147/JBM.S508896.

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

Jové-Solavera D, Rámila M, Ferrer-Cortés X, et al.

Scientific reports 2025; (15(1)):11843 doi:10.1038/s41598-025-95590-x.

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.

Improvements in health-related quality of life in patients with transfusion-dependent β-thalassemia after exagamglogene autotemcel.

Fuente J, Frangoul H, Lang P, et al.

Blood advances 2025; (9(24)):6502-6510 doi:10.1182/bloodadvances.2025016702.

Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.

Masood Khan MT, Ul Haq I, Ali A, et al.

Hemoglobin 2025; (49(6)):421-423 doi:10.1080/03630269.2025.2576019.

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.

Yuan JH, Higuchi Y, Ando M, et al.

Journal of human genetics 2026; (71(5)):275-282 doi:10.1038/s10038-025-01437-8.

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.

Abbas AA, Monagel DA, Althubaiti SJ

Saudi journal of medicine & medical sciences 2026; (14(1)):96-99 doi:10.4103/sjmms.sjmms_716_25.

Treatment Status and Quality-of-Life Assessment of Transfusion-Dependent Thalassemia Managed with Standard-of-Care or Hematopoietic Stem Cell Transplantation in Southern Jiangxi, China: A Cross-Sectional Study.

Liu PF, Wen S, Xiao Q, et al.

Hemoglobin 2026; (50(2)):101-110 doi:10.1080/03630269.2026.2624486.

Utility of Iron Staining in Bone Marrow Aspirates in the Era of Next-Generation Sequencing: A Retrospective Single-Centre Study.

Ganeshalingam V, Kamel K

International journal of laboratory hematology 2026; (48(4)):831-838 doi:10.1111/ijlh.70114.

Management of Iron Overload in Infants and Toddlers With Diamond-Blackfan Anemia Syndrome: A French-Italian Study.

Torchio F, Lecalvez B, Garelli E, et al.

American journal of hematology 2026; (101(8)):1856-1865 doi:10.1002/ajh.70354.

A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.

Kamble P, Dongerdiye R, More T, et al.

Molecular biology reports 2026; (53(1)).

Allogenic Hematopoietic Stem Cell Transplantation in Children With Transfusion Dependent Thalassemia Using Treosulfan-Thiotepa-Fludarabine Based Conditioning.

Arora S, Chakraborty S, Panda NR, et al.

Journal of pediatric hematology/oncology 2026; (48(7)):e292-e298 doi:10.1097/MPH.0000000000003246.

Early-Onset TRNT1-Related SIFD Syndrome with an Additional Monoallelic C7 Variant: A Pediatric Case Report.

Juganaru I, Cojocaru A, Grigorita A, et al.

Diagnostics (Basel, Switzerland) 2026; (16(16)) doi:10.3390/diagnostics16162633.

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.

Acute-Onset Iron Overload Cardiomyopathy in Diamond-Blackfan Anaemia: A Case Report of Rapid Ejection Fraction Decline.

Waddon J, Hawkins C, Toquero M, et al.

Cureus 2026; (18(9)):e116110 doi:10.7759/cureus.116110.

Beyond illness severity: transdiagnostic cognitive vulnerabilities as independent predictors of psychological distress in parents of children with rare genetic disorders.

Cuturilo G, Vukosavljevic Gvozden T, Gvozden M, et al.

Frontiers in psychiatry 2026; (17()):1963031 doi:10.3389/fpsyt.2026.1963031.