Research & Literature

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.

Iron Deficiency and Other Types of Anemia in Infants and Children.

Wang M

American family physician 2016; (93(4)):270-8.

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.

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.

Validation of New Care Coordination Quality Measures for Children with Medical Complexity.

Parast L, Burkhart Q, Gidengil C, et al.

Academic pediatrics 2018; (18(5)):581-588 doi:10.1016/j.acap.2018.03.006.

Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.

Na I, Catena D, Kong MJ, et al.

International journal of molecular sciences 2018; (19(7)) doi:10.3390/ijms19071899.

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.

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.

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.

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.

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.

Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias.

Lian Y, Shi J, Nie N, et al.

Hemoglobin 2019; (43(4-5)):229-235 doi:10.1080/03630269.2019.1655440.

[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.

Hepcidin and Anemia: A Tight Relationship.

Pagani A, Nai A, Silvestri L, Camaschella C

Frontiers in physiology 2019; (10()):1294 doi:10.3389/fphys.2019.01294.

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.

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.

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.

Inherited microcytic anemias.

Cappellini MD, Russo R, Andolfo I, Iolascon A

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):465-470 doi:10.1182/hematology.2020000158.

[Rare sideroblastic anemias: about 2 cases, review of the literature and reminder of the main etiologies].

Hij A, Meunier AS, Vignon G, et al.

Annales de biologie clinique 2021; (79(1)):69-74 doi:10.1684/abc.2021.1618.

A Retrospective Study Using Mentzer Index for Prevalence of Iron Deficiency Anemia among Infants Visiting Maternal Centers at the Age of One Year.

Amer J

Anemia 2022; (2022()):7236317 doi:10.1155/2022/7236317.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

Tumienė B, Del Toro Riera M, Grikiniene J, et al.

Journal of multidisciplinary healthcare 2022; (15()):553-566 doi:10.2147/JMDH.S251863.

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.

Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.

Walton H, Simpson A, Ramsay AIG, et al.

Orphanet journal of rare diseases 2022; (17(1)):171 doi:10.1186/s13023-022-02321-w.

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.

Iron Metabolism in the Disorders of Heme Biosynthesis.

Ricci A, Di Betto G, Bergamini E, et al.

Metabolites 2022; (12(9)) doi:10.3390/metabo12090819.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

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.

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.

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.

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.

Iron Deficiency Anemia: An Updated Review.

Leung AKC, Lam JM, Wong AHC, et al.

Current pediatric reviews 2024; (20(3)):339-356 doi:10.2174/1573396320666230727102042.

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.

Survey of patient satisfaction with genetic counseling services in Korea.

Choi IH, Kim YK, Yang SY, et al.

Journal of genetic counseling 2025; (34(1)):e1922 doi:10.1002/jgc4.1922.

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.

The emotional burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy: A qualitative study in Japan.

LoPresti M, Igarashi A, Sonohara Y, Bowditch S

Epilepsy & behavior : E&B 2024; (158()):109932 doi:10.1016/j.yebeh.2024.109932.

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.

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.

Anemia Due to Unexpected Zinc-Induced Copper Deficiency.

Chun N, Aman S, Xu D, et al.

Hematology reports 2025; (17(4)) doi:10.3390/hematolrep17040035.

The burden of illness in Prader-Willi syndrome: a systematic literature review.

Dempsey D, Hall M, Lanning B, et al.

Orphanet journal of rare diseases 2025; (20(1)):374 doi:10.1186/s13023-025-03787-0.

Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.

Davis C, Bogaert L, Powell J, Low K

Journal of medical Internet research 2025; (27()):e77087 doi:10.2196/77087.

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.

Severe Iron-Deficiency Anemia and Hypoalbuminemia Associated With Excessive Cow's Milk Intake Driven by a Strong Belief in the Health Benefits of Cow's Milk in a 16-Month-Old Girl: A Case Report.

Gotou T, Hagihara T, Wada Y, et al.

Cureus 2026; (18(1)):e101657 doi:10.7759/cureus.101657.

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)).

A diagnostic pitfall in iron-refractory microcytic hypochromic anemia with acquired ring sideroblasts initially treated as iron deficiency anemia-a case report.

Liu X, Ma J, Song A, et al.

Frontiers in medicine 2026; (13()):1838995 doi:10.3389/fmed.2026.1838995.

CRISPR/Cas9-Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia.

Yazdanparast S, Galehdari H, Khatami S, et al.

The journal of gene medicine 2026; (28(10)):e70114 doi:10.1002/jgm.70114.

Understanding the Experiences and Needs of Parents With Children With Epidermolysis Bullosa. A Qualitative Study to Inform the Development of a Self-help Toolkit.

Hughes O, Martin F, Thompson AR

The British journal of dermatology 2026; doi:10.1093/bjd/ljag477.