Research & Literature

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.

Conte S, Katayama S, Vesterlund L, et al.

British journal of haematology 2015; (171(4)):478-90 doi:10.1111/bjh.13610.

Splicing factor SF3B1 mutations and ring sideroblasts in myelodysplastic syndromes: a Brazilian cohort screening study.

Donaires FS, Martelli F, Alves-Paiva RM, et al.

Revista brasileira de hematologia e hemoterapia 2016; (38(4)):320-324 doi:10.1016/j.bjhh.2016.06.002.

Copper deficiency-related bone marrow changes secondary to long-term total parenteral nutrition.

Oo TH, Hu S

Clinical case reports 2017; (5(2)):195-196 doi:10.1002/ccr3.789.

A phase 3 randomized, placebo-controlled study assessing the efficacy and safety of epoetin-α in anemic patients with low-risk MDS.

Fenaux P, Santini V, Spiriti MAA, et al.

Leukemia 2018; (32(12)):2648-2658 doi:10.1038/s41375-018-0118-9.

Copper deficiency anemia: review article.

Myint ZW, Oo TH, Thein KZ, et al.

Annals of hematology 2018; (97(9)):1527-1534 doi:10.1007/s00277-018-3407-5.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, et al.

Haematologica 2018; (103(12)):e564-e566 doi:10.3324/haematol.2018.194464.

The Frequency of SF3B1 Mutations in Thai Patients with Myelodysplastic Syndrome

Rujirachaivej P, Siriboonpiputtana T, Rerkamnuaychoke B, et al.

Asian Pacific journal of cancer prevention : APJCP 2018; (19(7)):1825-1831 doi:10.22034/APJCP.2018.19.7.1825.

CYP2E1 activity and children with obesity: possible confounding factors.

Kaur H, Sarma P, Prakash A, Medhi B

British journal of clinical pharmacology 2019; (85(2)):457 doi:10.1111/bcp.13769.

Impact of splicing factor mutations on clinical features in patients with myelodysplastic syndromes.

Shingai N, Harada Y, Iizuka H, et al.

International journal of hematology 2018; (108(6)):598-606 doi:10.1007/s12185-018-2551-y.

Copper deficiency-induced anemia is caused by a mitochondrial metabolic reprograming in erythropoietic cells.

Jensen EL, Gonzalez-Ibanez AM, Mendoza P, et al.

Metallomics : integrated biometal science 2019; (11(2)):282-290 doi:10.1039/c8mt00224j.

The relation of SF3B1 mutation and intracellular iron in myelodysplastic syndrome with less than 5% bone marrow blasts.

Ma L, Luo Y, Jiang L, et al.

Leukemia & lymphoma 2019; (60(5)):1179-1186 doi:10.1080/10428194.2018.1520990.

[A microcytic sideroblastic anemia successfully treated with B6 vitamin].

Allain JS, Belhomme N, Henriot B, et al.

La Revue de medecine interne 2019; (40(7)):462-465 doi:10.1016/j.revmed.2019.05.009.

Activin Receptor II Ligand Traps: New Treatment Paradigm for Low-Risk MDS.

Komrokji RS

Current hematologic malignancy reports 2019; (14(4)):346-351 doi:10.1007/s11899-019-00517-9.

Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.

Fenaux P, Platzbecker U, Mufti GJ, et al.

The New England journal of medicine 2020; (382(2)):140-151 doi:10.1056/NEJMoa1908892.

Wilson disease: copper deficiency and iatrogenic neurological complications with zinc therapy.

Wu LM, Ekladious A, Wheeler L, Mohamad AA

Internal medicine journal 2020; (50(1)):121-123 doi:10.1111/imj.14694.

SF3B1 Mutation but Not Ring Sideroblasts Identifies a Specific Group of Myelodysplastic Syndrome-Refractory Cytopenia With Multilineage Dysplasia.

Xiong B, Xue M, Yu Y, et al.

Clinical lymphoma, myeloma & leukemia 2020; (20(5)):329-339.e3 doi:10.1016/j.clml.2020.01.005.

Treatment of Acquired Sideroblastic Anemias.

Mangaonkar AA, Patnaik MM

Hematology/oncology clinics of North America 2020; (34(2)):401-420 doi:10.1016/j.hoc.2019.11.002.

A Rare Case of Severe Copper Deficiency in an Infant with Exclusive Breast Feeding Mimicking Myelodysplastic Syndrome.

Kohla S, Ali E, Amer A, et al.

Case reports in oncology 2020; (13(1)):62-68 doi:10.1159/000505483.

Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance.

Song J, Hussaini M, Qin D, et al.

American journal of clinical pathology 2020; (154(1)):48-56 doi:10.1093/ajcp/aqaa016.

SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.

Malcovati L, Stevenson K, Papaemmanuil E, et al.

Blood 2020; (136(2)):157-170 doi:10.1182/blood.2020004850.

MDS/MPN-RS-T justified inclusion as a unique disease entity?

Montalban-Bravo G, Garcia-Manero G

Best practice & research. Clinical haematology 2020; (33(2)):101147 doi:10.1016/j.beha.2020.101147.

New Subtype Proposed for Myelodysplastic Syndrome.

American journal of medical genetics. Part A 2020; (182(8)):1854-1855 doi:10.1002/ajmg.a.61238.

Comparison and Implications of Mutational Profiles of Myelodysplastic Syndromes, Myeloproliferative Neoplasms, and Myelodysplastic/Myeloproliferative Neoplasms: A Meta-Analysis.

Wan Z, Han B

Frontiers in oncology 2020; (10()):579221 doi:10.3389/fonc.2020.579221.

Therapy for lower-risk MDS.

Carraway HE, Saygin C

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):426-433 doi:10.1182/hematology.2020000127.

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".

Patnaik MM, Tefferi A

American journal of hematology 2021; (96(3)):379-394 doi:10.1002/ajh.26090.

Copper Deficiency and Cytopenias.

Morales S, Nael A, Buchbinder D

Journal of pediatric hematology/oncology 2021; (43(2)):68-69 doi:10.1097/MPH.0000000000002047.

Treatment options for lower-risk myelodysplastic syndromes. Where are we now?

Volpe VO, Komrokji RS

Therapeutic advances in hematology 2021; (12()):2040620720986641 doi:10.1177/2040620720986641.

Development of luspatercept to treat ineffective erythropoiesis.

Kubasch AS, Fenaux P, Platzbecker U

Blood advances 2021; (5(5)):1565-1575 doi:10.1182/bloodadvances.2020002177.

New drugs for myeloid neoplasms with ring sideroblasts: Luspatercept vs imetelstat.

Tefferi A

American journal of hematology 2021; (96(7)):761-763 doi:10.1002/ajh.26197.

Validation of the international working group proposal for SF3B1 mutant myelodysplastic syndromes.

Komrokji R, Volpe V, Chan O, et al.

Blood 2021; (138(11)):989-992 doi:10.1182/blood.2021010831.

The European Medicines Agency Review of Luspatercept for the Treatment of Adult Patients With Transfusion-dependent Anemia Caused by Low-risk Myelodysplastic Syndromes With Ring Sideroblasts or Beta-thalassemia.

Delgado J, Voltz C, Stain M, et al.

HemaSphere 2021; (5(8)):e616 doi:10.1097/HS9.0000000000000616.

Role of Zinc and Copper in Erythropoiesis in Patients on Hemodialysis.

Takahashi A

Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation 2022; (32(6)):650-657 doi:10.1053/j.jrn.2022.02.007.

Red blood cell transfusion burden in myelodysplastic syndromes (MDS) with ring Sideroblasts (RS): A retrospective multicenter study by the Groupe Francophone des Myélodysplasies (GFM).

Jouzier C, Cherait A, Cony-Makhoul P, et al.

Transfusion 2022; (62(5)):961-973 doi:10.1111/trf.16884.

Exploring the rationale for red cell transfusion in myelodysplastic syndrome patients: emerging data and future insights.

Finelli C, Parisi S, Paolini S

Expert review of hematology 2022; (15(5)):411-421 doi:10.1080/17474086.2022.2077721.

SF3B1 mutations in primary and secondary myelofibrosis: Clinical, molecular and prognostic correlates.

Loscocco GG, Guglielmelli P, Mannelli F, et al.

American journal of hematology 2022; (97(9)):E347-E349 doi:10.1002/ajh.26648.

Copper and Zinc Feud: Is This Myelodysplasia or Myelodysplastic Syndrome?

Kumar M, Nanja Reddy S, Ismail R

Cureus 2022; (14(7)):e26789 doi:10.7759/cureus.26789.

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome.

Ochi T, Fujiwara T, Ono K, et al.

Scientific reports 2022; (12(1)):14562 doi:10.1038/s41598-022-18921-2.

Many faces of SF3B1-mutated myeloid neoplasms: concurrent mutational profiles contribute to the diverse clinical and morphologic features.

Aqil B, Sukhanova M, Behdad A, et al.

Human pathology 2022; (129()):81-89 doi:10.1016/j.humpath.2022.08.007.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

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

Risk stratifying MDS in the time of precision medicine.

Cazzola M

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):375-381 doi:10.1182/hematology.2022000349.

Impact of the International Consensus Classification of myelodysplastic syndromes.

Zhang Y, Wu J, Xu Z, et al.

British journal of haematology 2023; (201(3)):443-448 doi:10.1111/bjh.18628.

Efficacy and safety of luspatercept versus epoetin alfa in erythropoiesis-stimulating agent-naive, transfusion-dependent, lower-risk myelodysplastic syndromes (COMMANDS): interim analysis of a phase 3, open-label, randomised controlled trial.

Platzbecker U, Della Porta MG, Santini V, et al.

Lancet (London, England) 2023; (402(10399)):373-385 doi:10.1016/S0140-6736(23)00874-7.

Long-term utilization and benefit of luspatercept in transfusion-dependent, erythropoiesis-stimulating agent-refractory or -intolerant patients with lower-risk myelodysplastic syndromes with ring sideroblasts.

Platzbecker U, Santini V, Komrokji RS, et al.

Leukemia 2023; (37(11)):2314-2318 doi:10.1038/s41375-023-02031-7.

Treatment Considerations of Myelodysplastic Syndromes/Neoplasms for Pathologists.

Madanat YF, Zeidan AM

Clinics in laboratory medicine 2023; (43(4)):685-698 doi:10.1016/j.cll.2023.07.003.

Transfusion avoidance in myelodysplastic neoplasms.

Griffiths EA

Current opinion in hematology 2024; (31(2)):40-46 doi:10.1097/MOH.0000000000000794.

How to classify risk based on clinical and molecular modeling: integrating molecular markers in the risk assessment of myelodysplastic syndrome.

Xian RR

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):51-58 doi:10.1182/hematology.2023000420.

Dolutegravir-induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication.

Dhonju K, Gautam A, Dahal A, et al.

Clinical case reports 2023; (11(12)):e8301 doi:10.1002/ccr3.8301.

Molecular International Prognostic Scoring System for Myelodysplastic Syndromes.

Bernard E, Tuechler H, Greenberg PL, et al.

NEJM evidence 2022; (1(7)):EVIDoa2200008 doi:10.1056/EVIDoa2200008.

Treatment patterns and outcomes with luspatercept in patients with lower-risk myelodysplastic syndromes: A retrospective US cohort analysis.

Mukherjee S, Brown-Bickerstaff C, Falkenstein A, et al.

HemaSphere 2024; (8(1)):e38 doi:10.1002/hem3.38.

Comparison of the 2022 world health organization classification and international consensus classification in myelodysplastic syndromes/neoplasms.

Lee WH, Lin CC, Tsai CH, et al.

Blood cancer journal 2024; (14(1)):57 doi:10.1038/s41408-024-01031-9.

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia.

Stagg MP, Miatech J, Majid B, Polala R

Cureus 2024; (16(5)):e59796 doi:10.7759/cureus.59796.

Gelatinous transformation of bone marrow associated with ring sideroblasts: A diagnostic pitfall.

Hussain M, Rawas F, Gosnell J, et al.

Annals of diagnostic pathology 2024; (73()):152385 doi:10.1016/j.anndiagpath.2024.152385.

NCCN Guidelines® Insights: Myelodysplastic Syndromes, Version 2.2025.

Greenberg PL, Stone RM, Abaza Y, et al.

Journal of the National Comprehensive Cancer Network : JNCCN 2025; (23(3)):66-75 doi:10.6004/jnccn.2025.0013.

Validation and comparison of the molecular international prognostic scoring system (IPSS-M) and the revised international prognostic scoring system (IPSS-R) in myelodysplastic neoplasms (MDS): a retrospective study.

Hu M, Zhou M, Shen Y, et al.

Hematology (Amsterdam, Netherlands) 2025; (30(1)):2479257 doi:10.1080/16078454.2025.2479257.

Long-Term Transfusion Independence with Luspatercept Versus Epoetin Alfa in Erythropoiesis-Stimulating Agent-Naive, Lower-Risk Myelodysplastic Syndromes in the COMMANDS Trial.

Garcia-Manero G, Santini V, Zeidan AM, et al.

Advances in therapy 2025; (42(7)):3576-3589 doi:10.1007/s12325-025-03208-5.

Rare association between hepatotoxicity and sideroblastic anaemia after taking Garcinia cambogia-based dietary supplement.

Tang K, Cheung CY

BMJ case reports 2025; (18(6)) doi:10.1136/bcr-2025-265732.

Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants.

Nakao S, Nakaseko C, Ohwada C, et al.

Case reports in hematology 2025; (2025()):7046013 doi:10.1155/crh/7046013.

Management of Anemia in Lower-Risk Myelodysplastic Syndromes/Neoplasms With Novel Agents.

Hoff FW, Chung SS, Zeidan AM, Madanat YF

JCO oncology practice 2025; OP2400910 doi:10.1200/OP-24-00910.

Case Report: Myelodysplastic/myeloproliferative neoplasm with concurrent SF3B1, ASXL1, JAK2 and CBL mutations and <15% bone marrow ringed sideroblasts.

Wang Y, Jin S

Frontiers in oncology 2025; (15()):1622820 doi:10.3389/fonc.2025.1622820.

A Case of Myelodysplastic Syndrome-Induced Acquired Sideroblastic Anemia.

Osa-Andrews B, Ogunbileje JO, Harris N, Wynn T

EJIFCC 2025; (36(3)):402-406.

Updates in low/intermediate-risk MDS.

Carraway HE

Hematology. American Society of Hematology. Education Program 2025; (2025(1)):699-708 doi:10.1182/hematology.2025000768.

Modulation of the clonal burden in patients with lower-risk myelodysplastic neoplasms treated with imetelstat.

Santini V, Zeidan AM, Van Eygen K, et al.

Leukemia 2026; (40(2)):397-409 doi:10.1038/s41375-025-02831-z.