Research & Literature

Discovery and characterization of a novel non-competitive inhibitor of the divalent metal transporter DMT1/SLC11A2.

Montalbetti N, Simonin A, Simonin C, et al.

Biochemical pharmacology 2015; (96(3)):216-24.

Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of β-thalassemia.

Kautz L, Jung G, Du X, et al.

Blood 2015; (126(17)):2031-7 doi:10.1182/blood-2015-07-658419.

Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders.

de Swart L, Hendriks JC, van der Vorm LN, et al.

Haematologica 2016; (101(1)):38-45 doi:10.3324/haematol.2015.133983.

Ineffective erythropoiesis and regulation of iron status in iron loading anaemias.

Camaschella C, Nai A

British journal of haematology 2016; (172(4)):512-23 doi:10.1111/bjh.13820.

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.

Cardiac complications in thalassemia major.

Auger D, Pennell DJ

Annals of the New York Academy of Sciences 2016; (1368(1)):56-64 doi:10.1111/nyas.13026.

Gonadal Hormones in Adolescent Females with β-Thalassemia in Relation to Iron Load.

Hagag AA, Badraia IM, Elfarargy MS, Abo El-Enein AM

Endocrine, metabolic & immune disorders drug targets 2016; (16(2)):148-153 doi:10.2174/1871530316666160506150516.

The mutual control of iron and erythropoiesis.

Camaschella C, Pagani A, Nai A, Silvestri L

International journal of laboratory hematology 2016; (38 Suppl 1()):20-6 doi:10.1111/ijlh.12505.

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.

Shalev H, Al-Athamen K, Levi I, et al.

European journal of haematology 2017; (98(1)):13-18 doi:10.1111/ejh.12778.

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

Méndez M, Moreno-Carralero MI, Morado-Arias M, et al.

Molecular genetics & genomic medicine 2016; (4(3)):273-82 doi:10.1002/mgg3.202.

Deferiprone-induced agranulocytosis: 20 years of clinical observations.

Tricta F, Uetrecht J, Galanello R, et al.

American journal of hematology 2016; (91(10)):1026-31 doi:10.1002/ajh.24479.

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.

Longitudinal MRI and Ferritin Monitoring of Iron Overload in Chronically Transfused and Chelated Children With Sickle Cell Anemia and Thalassemia Major.

Aubart M, Ou P, Elie C, et al.

Journal of pediatric hematology/oncology 2016; (38(7)):497-502 doi:10.1097/MPH.0000000000000595.

The questioning for routine monthly monitoring of proteinuria in patients with β-thalassemia on deferasirox chelation.

Bayhan T, Ünal Ş, Ünlü O, et al.

Hematology (Amsterdam, Netherlands) 2017; (22(4)):248-251 doi:10.1080/10245332.2016.1252004.

Acute Liver Failure During Deferasirox Chelation: A Toxicity Worth Considering.

Menaker N, Halligan K, Shur N, et al.

Journal of pediatric hematology/oncology 2017; (39(3)):217-222 doi:10.1097/MPH.0000000000000786.

Deferiprone for the treatment of transfusional iron overload in thalassemia.

Belmont A, Kwiatkowski JL

Expert review of hematology 2017; (10(6)):493-503 doi:10.1080/17474086.2017.1318052.

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.

Iron overload in thalassemia: different organs at different rates.

Taher AT, Saliba AN

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):265-271 doi:10.1182/asheducation-2017.1.265.

RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of β-thalassemia intermedia.

Schmidt PJ, Liu K, Visner G, et al.

American journal of hematology 2018; (93(6)):745-750 doi:10.1002/ajh.25079.

Magnetic resonance imaging during management of patients with transfusion-dependent thalassemia: a single-center experience.

Karakas Z, Yilmaz Y, Bayramoglu Z, et al.

La Radiologia medica 2018; (123(8)):572-576 doi:10.1007/s11547-018-0889-0.

Rare microcytic anemias.

Puy H, Manceau H, Karim Z, Kan-Nengiesser C

Bulletin de l'Academie nationale de medecine 2016; (200(2)):335-347.

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.

Erythroferrone inhibits the induction of hepcidin by BMP6.

Arezes J, Foy N, McHugh K, et al.

Blood 2018; (132(14)):1473-1477 doi:10.1182/blood-2018-06-857995.

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.

Non-transferrin-bound iron transporters.

Knutson MD

Free radical biology & medicine 2019; (133()):101-111 doi:10.1016/j.freeradbiomed.2018.10.413.

Effects of deferasirox dose and decreasing serum ferritin concentrations on kidney function in paediatric patients: an analysis of clinical laboratory data from pooled clinical studies.

Bird ST, Swain RS, Tian F, et al.

The Lancet. Child & adolescent health 2019; (3(1)):15-22 doi:10.1016/S2352-4642(18)30335-3.

International sentinel site surveillance of patients with transfusional hemosiderosis treated with deferasirox in actual practice setting.

El-Beshlawy A, Inusa B, Beneitez Pastor D, et al.

Hematology (Amsterdam, Netherlands) 2019; (24(1)):238-246 doi:10.1080/16078454.2018.1558758.

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.

The value of magnetic resonance imaging in evaluation of myocardial and liver iron overload in a thalassaemia endemic population: a report from Northeastern Thailand.

Chaosuwannakit N, Makarawate P

Polish journal of radiology 2019; (84()):e262-e268 doi:10.5114/pjr.2019.86094.

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.

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.

Antibodies against the erythroferrone N-terminal domain prevent hepcidin suppression and ameliorate murine thalassemia.

Arezes J, Foy N, McHugh K, et al.

Blood 2020; (135(8)):547-557 doi:10.1182/blood.2019003140.

Iron metabolism and iron disorders revisited in the hepcidin era.

Camaschella C, Nai A, Silvestri L

Haematologica 2020; (105(2)):260-272 doi:10.3324/haematol.2019.232124.

Diagnostic performance of reticulocyte hemoglobin equivalent in assessing the iron status.

Chinudomwong P, Binyasing A, Trongsakul R, Paisooksantivatana K

Journal of clinical laboratory analysis 2020; (34(6)):e23225 doi:10.1002/jcla.23225.

Difficult diagnosis of cardiac haemochromatosis: a case report.

Sudmantaitė V, Čelutkienė J, Glaveckaite S, Katkus R

European heart journal. Case reports 2020; (4(1)):1-6 doi:10.1093/ehjcr/ytaa012.

Inherited iron overload disorders.

Piperno A, Pelucchi S, Mariani R

Translational gastroenterology and hepatology 2020; (5()):25 doi:10.21037/tgh.2019.11.15.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F, Scarcia P, Monné M

Biomolecules 2020; (10(4)) doi:10.3390/biom10040655.

MR imaging assessment and quantification of liver iron.

França M, Carvalho JG

Abdominal radiology (New York) 2020; (45(11)):3400-3412 doi:10.1007/s00261-020-02574-8.

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.

Real-World Experience Measurement of Liver Iron Concentration by R2 vs. R2 Star MRI in Hemoglobinopathies.

Abou Zahr R, Burkhardt BEU, Ehsan L, et al.

Diagnostics (Basel, Switzerland) 2020; (10(10)) doi:10.3390/diagnostics10100768.

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.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Lira Zidanes A, Marchi G, Busti F, et al.

Frontiers in physiology 2020; (11()):581386 doi:10.3389/fphys.2020.581386.

The association between pre-transfusion hemoglobin levels and thalassemia complications.

Wanchaitanawong W, Tantiworawit A, Piriyakhuntorn P, et al.

Hematology (Amsterdam, Netherlands) 2021; (26(1)):1-8 doi:10.1080/16078454.2020.1856513.

Erythroferrone structure, function, and physiology: Iron homeostasis and beyond.

Srole DN, Ganz T

Journal of cellular physiology 2021; (236(7)):4888-4901 doi:10.1002/jcp.30247.

Deferasirox-associated Fanconi syndrome in adult patients with transfusional iron overload.

Yui JC, Geara A, Sayani F

Vox sanguinis 2021; (116(7)):793-797 doi:10.1111/vox.13064.

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Huang J, Ge M, Shao Y, et al.

BMC medical genomics 2021; (14(1)):107 doi:10.1186/s12920-021-00950-x.

Hematopoietic stem cell transplantation for people with β-thalassaemia.

Sharma A, Jagannath VA, Puri L

The Cochrane database of systematic reviews 2021; (4()):CD008708 doi:10.1002/14651858.CD008708.pub5.

Ethnic Differences in Iron Status.

Kang W, Barad A, Clark AG, et al.

Advances in nutrition (Bethesda, Md.) 2021; (12(5)):1838-1853 doi:10.1093/advances/nmab035.

Oral ferroportin inhibitor vamifeport for improving iron homeostasis and erythropoiesis in β-thalassemia: current evidence and future clinical development.

Porter J, Taher A, Viprakasit V, et al.

Expert review of hematology 2021; (14(7)):633-644 doi:10.1080/17474086.2021.1935854.

Modern management of iron overload in thalassemia major patients guided by MRI techniques: real-world data from a long-term cohort study.

Bayraktaroglu S, Karadas N, Onen S, et al.

Annals of hematology 2022; (101(3)):521-529 doi:10.1007/s00277-021-04748-w.

Quality of Life and Burden of Disease in Italian Patients with Transfusion-Dependent Beta-Thalassemia.

Tedone F, Lamendola P, Lopatriello S, et al.

Journal of clinical medicine 2021; (11(1)) doi:10.3390/jcm11010015.

Alpha- and Beta-thalassemia: Rapid Evidence Review.

Baird DC, Batten SH, Sparks SK

American family physician 2022; (105(3)):272-280.

Safety and Efficacy of the New Combination Iron Chelation Regimens in Patients with Transfusion-Dependent Thalassemia and Severe Iron Overload.

Origa R, Cinus M, Pilia MP, et al.

Journal of clinical medicine 2022; (11(7)) doi:10.3390/jcm11072010.

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.

Romero-Cortadellas L, Hernández G, Ferrer-Cortès X, et al.

International journal of molecular sciences 2022; (23(8)) doi:10.3390/ijms23084406.

Iron deficiency screening is a key issue in chronic inflammatory diseases: A call to action.

Cacoub P, Choukroun G, Cohen-Solal A, et al.

Journal of internal medicine 2022; (292(4)):542-556 doi:10.1111/joim.13503.

Iron Mining for Erythropoiesis.

Correnti M, Gammella E, Cairo G, Recalcati S

International journal of molecular sciences 2022; (23(10)) doi:10.3390/ijms23105341.

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.

Thalassemia Intermedia: Chelator or Not?

Lee YC, Yen CT, Lee YL, Chen RJ

International journal of molecular sciences 2022; (23(17)) doi:10.3390/ijms231710189.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

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

Renal Function in Patients with Thalassemia Major Receiving Exjade® Dispersible Tablets and a New Film-coated Tablet Formulation of Deferasirox (Nanojade®).

Falahati V, Ghasemi A, Safari MR, et al.

Advanced biomedical research 2022; (11()):84 doi:10.4103/abr.abr_89_21.

Optimized serum ferritin prediction of iron overload in transfusion-dependent thalassemia: likelihood ratio and age-adjustment approach.

Kurban LA, Almarri BK, Alshamsi MH, et al.

Annals of Saudi medicine 2023; (43(2)):90-96 doi:10.5144/0256-4947.2023.90.

Severe iron overload cardiomyopathy manifested as acute myopericarditis: A case report.

Kosum P, Theerasuwipakorn N, Wicheantawatchai A, et al.

Radiology case reports 2024; (19(1)):290-295 doi:10.1016/j.radcr.2023.10.020.

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.

Revisiting iron overload status and change thresholds as predictors of mortality in transfusion-dependent β-thalassemia: a 10-year cohort study.

Musallam KM, Barella S, Origa R, et al.

Annals of hematology 2024; (103(7)):2283-2297 doi:10.1007/s00277-024-05715-x.

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.

Rates of severe neutropenia and infection risk in patients treated with deferiprone: 28 years of data.

Badawy SM, Palmblad J, Tricta F, et al.

Blood advances 2024; (8(21)):5641-5649 doi:10.1182/bloodadvances.2023012316.

Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease.

Taylor JL, Ayres-Galhardo PH, Brown BL

Biochemistry 2024; (63(13)):1636-1646 doi:10.1021/acs.biochem.4c00066.

Secondary Hemochromatosis Caused by Iron Overdose During Pregnancy and the Postpartum Period: A Case Report.

Shishii M, Hyuga S, Miyamoto M, et al.

Cureus 2024; (16(7)):e64355 doi:10.7759/cureus.64355.

The Diagnostic Performance of Serum Glycosylated Ferritin in Patients Undergoing Regular Blood Transfusion: An Indicator of Iron Overload to Initiate Iron Chelation Therapy.

Shrivastava A, Kumari S, Mohapatra S

Cureus 2024; (16(8)):e66695 doi:10.7759/cureus.66695.

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.

Systematic literature review of the indirect costs and humanistic burden of β-thalassemia.

Aydinok Y, Purushotham S, Yucel A, et al.

Therapeutic advances in hematology 2024; (15()):20406207241270872 doi:10.1177/20406207241270872.

[Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2024; (32(9)):787-798 doi:10.3760/cma.j.cn501113-20240712-00319.

Cardiovascular magnetic resonance in β-thalassemia major: beyond T2.

Meloni A, Saba L, Cademartiri F, et al.

La Radiologia medica 2024; (129(12)):1812-1822 doi:10.1007/s11547-024-01916-6.

Real-world experience with iron chelation therapy in transfusion-dependent thalassemia: impact of the oral chelators' era.

Pines M, Kleinert D, Thomas C, et al.

Annals of hematology 2024; (103(12)):5229-5234 doi:10.1007/s00277-024-06092-1.

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.

Iron Deficiency in Adults: A Review.

Auerbach M, DeLoughery TG, Tirnauer JS

JAMA 2025; (333(20)):1813-1823 doi:10.1001/jama.2025.0452.

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.

Beyond the blood: A practical guide to thalassemia care in the emergency department.

Mufarrij A, Hodroj MH, Charbel N, et al.

Blood reviews 2025; (74()):101327 doi:10.1016/j.blre.2025.101327.

Novel Red Blood Cell Exchange Parameters for Treatment of Transfusion-Dependent Thalassemia Based on Experience of Five Patients.

Sevcik K, Jackson C, Williams SM, et al.

Journal of hematology 2025; (14(4)):210-213 doi:10.14740/jh2086.

[Silent α-Thalassemia Complicated with the Alcohol-Induced Secondary Ring Sideroblastic Anemia].

Jiang Y, Chen Y, Yang L, Li WB

Zhongguo shi yan xue ye xue za zhi 2025; (33(4)):1094-1097 doi:10.19746/j.cnki.issn.1009-2137.2025.04.024.

A structural deletion in the 3'UTR of SLC11A2 is associated with altered iron status: Evidence from two large Danish cohorts.

Brøns N, Rigas AS, Kaspersen KA, et al.

British journal of haematology 2025; (207(5)):2123-2134 doi:10.1111/bjh.70210.

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.

Iron Overload: Pathophysiology, Diagnosis and Monitoring.

Chatzikalil E, Delaporta P, Bistas K, Kattamis A

International journal of laboratory hematology 2026; (48(4)):747-756 doi:10.1111/ijlh.70132.

Diagnostic Utility of High-Performance Liquid Chromatography and Its Correlation With Hematological Indices in the Evaluation of Hemoglobinopathies.

Sharma R, Khayyam N, Sharma SP, et al.

Cureus 2026; (18(5)):e109181 doi:10.7759/cureus.109181.

Diagnosis and Management of Transfusion-Dependent Thalassemia: Evidence-Based Guidelines From the Pediatric Hematology Oncology Chapter of the Indian Academy of Pediatrics.

Radhakrishnan N, Dewan P, Chandra J, et al.

Indian pediatrics 2026; (63(9)):612-637 doi:10.1007/s13312-026-00366-9.

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review.

Makis A, Saougou I, Hatzimichael E

HemaSphere 2026; (10(9)):e70465 doi:10.1002/hem3.70465.

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.

Living With Transfusion-Dependent Thalassemia: Adolescents' Journey Toward Normalcy-A Phenomenological Study.

Al-Hamad AM, Shattnawi KK

Journal of pediatric hematology/oncology nursing 2026; 27527530261486388 doi:10.1177/27527530261486388.