Research & Literature

Endocrine and bone complications in β-thalassemia intermedia: current understanding and treatment.

Inati A, Noureldine MA, Mansour A, Abbas HA

BioMed research international 2015; (2015()):813098 doi:10.1155/2015/813098.

Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F.

Cai WJ, Li J, Xie XM, Li DZ

International journal of laboratory hematology 2015; (37(6)):752-7 doi:10.1111/ijlh.12401.

Therapeutic efficacy of different iron chelators in Egyptian children with Beta Thalassemia with iron overload.

Hagag AA, Hamam MA, Taha OA, Hazaa SM

Infectious disorders drug targets 2015; (15(2)):98-105 doi:10.2174/1871526515666150724111721.

Profile of deferasirox for the treatment of patients with non-transfusion-dependent thalassemia syndromes.

Ricchi P, Marsella M

Drug design, development and therapy 2015; (9()):6475-82 doi:10.2147/DDDT.S40694.

Biochemical Markers of Bone Turnover in Patients with β-Thalassemia Major: A Single Center Study from Southern Pakistan.

Sultan S, Irfan SM, Ahmed SI

Advances in hematology 2016; (2016()):5437609 doi:10.1155/2016/5437609.

Iron overload in non-transfusion-dependent thalassemia: association with genotype and clinical risk factors.

Tantiworawit A, Charoenkwan P, Hantrakool S, et al.

International journal of hematology 2016; (103(6)):643-8 doi:10.1007/s12185-016-1991-5.

Laboratory diagnosis of thalassemia.

Brancaleoni V, Di Pierro E, Motta I, Cappellini MD

International journal of laboratory hematology 2016; (38 Suppl 1()):32-40 doi:10.1111/ijlh.12527.

Comparison of Tissue Elastography With Magnetic Resonance Imaging T2* and Serum Ferritin Quantification in Detecting Liver Iron Overload in Patients With Thalassemia Major.

Pipaliya N, Solanke D, Parikh P, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2017; (15(2)):292-298.e1 doi:10.1016/j.cgh.2016.08.046.

β-Thalassemia.

Origa R

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(6)):609-619 doi:10.1038/gim.2016.173.

Current Results and Future Research Priorities in Late Effects after Hematopoietic Stem Cell Transplantation for Children with Sickle Cell Disease and Thalassemia: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Stem Cell Transplantation.

Shenoy S, Angelucci E, Arnold SD, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017; (23(4)):552-561 doi:10.1016/j.bbmt.2017.01.009.

β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.

De Sanctis V, Kattamis C, Canatan D, et al.

Mediterranean journal of hematology and infectious diseases 2017; (9(1)):e2017018 doi:10.4084/MJHID.2017.018.

Anthropometric measurements in children having transfusion-dependent beta thalassemia.

Moiz B, Habib A, Sawani S, et al.

Hematology (Amsterdam, Netherlands) 2018; (23(4)):248-252 doi:10.1080/10245332.2017.1396044.

Clinical Classification, Screening and Diagnosis for Thalassemia.

Viprakasit V, Ekwattanakit S

Hematology/oncology clinics of North America 2018; (32(2)):193-211 doi:10.1016/j.hoc.2017.11.006.

Hematopoietic Stem Cell Transplantation in Thalassemia.

Strocchio L, Locatelli F

Hematology/oncology clinics of North America 2018; (32(2)):317-328 doi:10.1016/j.hoc.2017.11.011.

Low-dose Synachten test with measurement of salivary cortisol in adult patients with β-thalassemia major.

Ambrogio AG, Danesi L, Baldini M, et al.

Endocrine 2018; (60(2)):348-354 doi:10.1007/s12020-018-1562-z.

Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience.

Rahal I, Galambrun C, Bertrand Y, et al.

Haematologica 2018; (103(7)):1143-1149 doi:10.3324/haematol.2017.183467.

[Clinical analysis of three cases with beta-thalassemia].

Li XY, Liu MJ, Xu LH, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(4)):294-297 doi:10.3760/cma.j.issn.0578-1310.2018.04.011.

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.

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia.

Thompson AA, Walters MC, Kwiatkowski J, et al.

The New England journal of medicine 2018; (378(16)):1479-1493 doi:10.1056/NEJMoa1705342.

Red blood cell specifications for patients with hemoglobinopathies: a systematic review and guideline.

Compernolle V, Chou ST, Tanael S, et al.

Transfusion 2018; (58(6)):1555-1566 doi:10.1111/trf.14611.

Transfusion practices and complications in thalassemia.

Lal A, Wong TE, Andrews J, et al.

Transfusion 2018; (58(12)):2826-2835 doi:10.1111/trf.14875.

Noninvasive assessment and risk factors of liver fibrosis in patients with thalassemia major using shear wave elastography.

Al-Khabori M, Daar S, Al-Busafi SA, et al.

Hematology (Amsterdam, Netherlands) 2019; (24(1)):183-188 doi:10.1080/10245332.2018.1540518.

Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.

Moassas F, Nweder MS, Murad H

BMC pediatrics 2019; (19(1)):61 doi:10.1186/s12887-019-1435-5.

A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient.

Zhu F, Wei X, Cai D, et al.

International journal of laboratory hematology 2019; (41(4)):456-460 doi:10.1111/ijlh.13021.

Erythrocyte indices in a large cohort of β-thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia.

Singha K, Taweenan W, Fucharoen G, Fucharoen S

International journal of laboratory hematology 2019; (41(4)):513-518 doi:10.1111/ijlh.13035.

Dual-energy X-ray absorptiometry pitfalls in Thalassemia Major.

Pellegrino F, Zatelli MC, Bondanelli M, et al.

Endocrine 2019; (65(3)):469-482 doi:10.1007/s12020-019-02003-x.

Thalassemia: Common Clinical Queries in Management.

Lal A, Bansal D

Indian journal of pediatrics 2020; (87(1)):75-81 doi:10.1007/s12098-019-03065-5.

The Effect of Blood Transfusion on Growth of Patients with Hb E/β-Thalassemia.

Chuansumrit A, Sirachainan N, Kitpoka P, et al.

Hemoglobin 2019; (43(4-5)):264-272 doi:10.1080/03630269.2019.1692863.

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.

Shmukler BE, Rivera A, Bhargava P, et al.

Blood cells, molecules & diseases 2020; (81()):102389 doi:10.1016/j.bcmd.2019.102389.

Systematic Literature Review of the Burden of Disease and Treatment for Transfusion-dependent β-Thalassemia.

Betts M, Flight PA, Paramore LC, et al.

Clinical therapeutics 2020; (42(2)):322-337.e2 doi:10.1016/j.clinthera.2019.12.003.

Arrhythmias and Sudden Cardiac Death in Beta-Thalassemia Major Patients: Noninvasive Diagnostic Tools and Early Markers.

Russo V, Melillo E, Papa AA, et al.

Cardiology research and practice 2019; (2019()):9319832 doi:10.1155/2019/9319832.

Relation Between Cardiac T2* Values and Electrocardiographic Parameters in Children With Transfusion-dependent Thalassemia.

Aggarwal P, Kumar I, Jain A, et al.

Journal of pediatric hematology/oncology 2020; (42(7)):e610-e614 doi:10.1097/MPH.0000000000001734.

Evaluation of the efficacy and safety of deferiprone compared with deferasirox in paediatric patients with transfusion-dependent haemoglobinopathies (DEEP-2): a multicentre, randomised, open-label, non-inferiority, phase 3 trial.

Maggio A, Kattamis A, Felisi M, et al.

The Lancet. Haematology 2020; (7(6)):e469-e478 doi:10.1016/S2352-3026(20)30100-9.

Update in Laboratory Diagnosis of Thalassemia.

Munkongdee T, Chen P, Winichagoon P, et al.

Frontiers in molecular biosciences 2020; (7()):74 doi:10.3389/fmolb.2020.00074.

Changing patterns in the epidemiology of β-thalassemia.

Kattamis A, Forni GL, Aydinok Y, Viprakasit V

European journal of haematology 2020; (105(6)):692-703 doi:10.1111/ejh.13512.

XPO1 regulates erythroid differentiation and is a new target for the treatment of β-thalassemia.

Guillem F, Dussiot M, Colin E, et al.

Haematologica 2020; (105(9)):2240-2249 doi:10.3324/haematol.2018.210054.

The use of luspatercept for thalassemia in adults.

Cappellini MD, Taher AT

Blood advances 2021; (5(1)):326-333 doi:10.1182/bloodadvances.2020002725.

Drug safety in thalassemia: lessons from the present and directions for the future.

Grech L, Sultana J, Borg K, Borg J

Expert opinion on drug safety 2021; (20(8)):937-947 doi:10.1080/14740338.2021.1919081.

Genetic and Epigenetic Therapies for β-Thalassaemia by Altering the Expression of α-Globin Gene.

Mettananda S

Frontiers in genome editing 2021; (3()):752278 doi:10.3389/fgeed.2021.752278.

Achievement of Pre- and Post-Transfusion Hemoglobin Levels in Adult Transfusion-Dependent Beta Thalassemia: Associated Factors and Relationship to Reduction of Spleen Enlargement.

Atmakusuma TD, Saragih EYP, Rajabto W

International journal of general medicine 2021; (14()):7515-7521 doi:10.2147/IJGM.S338114.

Curative therapy for hemoglobinopathies: an International Society for Cell & Gene Therapy Stem Cell Engineering Committee review comparing outcomes, accessibility and cost of ex vivo stem cell gene therapy versus allogeneic hematopoietic stem cell transplantation.

Leonard A, Bertaina A, Bonfim C, et al.

Cytotherapy 2022; (24(3)):249-261 doi:10.1016/j.jcyt.2021.09.003.

Betibeglogene Autotemcel Gene Therapy for Non-β0/β0 Genotype β-Thalassemia.

Locatelli F, Thompson AA, Kwiatkowski JL, et al.

The New England journal of medicine 2022; (386(5)):415-427 doi:10.1056/NEJMoa2113206.

Renal function in β-thalassemia major patients treated with two different iron-chelation regimes.

Tanous O, Azulay Y, Halevy R, et al.

BMC nephrology 2021; (22(1)):418 doi:10.1186/s12882-021-02630-5.

Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.

Chen M, Zhang M, Chen L, et al.

Journal of clinical laboratory analysis 2022; (36(2)):e24181 doi:10.1002/jcla.24181.

Nrf2 expands the intracellular pool of the chaperone AHSP in a cellular model of β-thalassemia.

Han G, Cao C, Yang X, et al.

Redox biology 2022; (50()):102239 doi:10.1016/j.redox.2022.102239.

Thalassemia-free and graft-versus-host-free survival: outcomes of hematopoietic stem cell transplantation for thalassemia major, Turkish experience.

Yesilipek MA, Uygun V, Kupesiz A, et al.

Bone marrow transplantation 2022; (57(5)):760-767 doi:10.1038/s41409-022-01613-w.

Significance of borderline HbA2 levels in β thalassemia carrier screening.

Colaco S, Colah R, Nadkarni A

Scientific reports 2022; (12(1)):5414 doi:10.1038/s41598-022-09250-5.

New Insights Into Pathophysiology of β-Thalassemia.

Sanchez-Villalobos M, Blanquer M, Moraleda JM, et al.

Frontiers in medicine 2022; (9()):880752 doi:10.3389/fmed.2022.880752.

Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.

Dissanayake R, Samarasinghe N, Waidyanatha S, et al.

BMC pediatrics 2022; (22(1)):344 doi:10.1186/s12887-022-03191-8.

2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-dependent Thalassemia.

Farmakis D, Porter J, Taher A, et al.

HemaSphere 2022; (6(8)):e732 doi:10.1097/HS9.0000000000000732.

Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.

Saha D, Chowdhury PK, Panja A, et al.

Hemoglobin 2022; (46(2)):118-123 doi:10.1080/03630269.2022.2088381.

New Entity-Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement.

Carsote M, Vasiliu C, Trandafir AI, et al.

Diagnostics (Basel, Switzerland) 2022; (12(8)) doi:10.3390/diagnostics12081921.

Non-Transfusion-Dependent Thalassemia: A Panoramic Review.

Shash H

Medicina (Kaunas, Lithuania) 2022; (58(10)) doi:10.3390/medicina58101496.

Increased autophagy leads to decreased apoptosis during β-thalassaemic mouse and patient erythropoiesis.

Chaichompoo P, Nithipongvanitch R, Kheansaard W, et al.

Scientific reports 2022; (12(1)):18628 doi:10.1038/s41598-022-21249-6.

Clinical Classification, Screening, and Diagnosis in Beta-Thalassemia and Hemoglobin E/Beta-Thalassemia.

Pines M, Sheth S

Hematology/oncology clinics of North America 2023; (37(2)):313-325 doi:10.1016/j.hoc.2022.12.003.

Fertility and Pregnancy in Women with Transfusion-Dependent Thalassemia.

Sayani FA, Singer ST, Carlberg KT, Vichinsky EP

Hematology/oncology clinics of North America 2023; (37(2)):393-411 doi:10.1016/j.hoc.2022.12.008.

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.

The relationship of myocardial and liver T2* values with cardiac function and laboratory findings in transfusion-dependent thalassemia major patients: A retrospective cardiac MRI study.

Abdi S, Taheri N, Zahedi Haghighi F, et al.

Journal of cardiovascular and thoracic research 2023; (15(2)):86-92 doi:10.34172/jcvtr.2023.31592.

Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis.

Sumedha D, Anita K

Journal of community genetics 2023; (14(6)):527-541 doi:10.1007/s12687-023-00683-7.

Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia.

Shaw J, Patra A, Khatun A, et al.

EJHaem 2024; (5(3)):440-446 doi:10.1002/jha2.923.

An evaluation of exagamglogene autotemcel for the treatment of sickle cell disease and transfusion-dependent beta-thalassaemia.

Handgretinger R, Mezger M

Expert opinion on biological therapy 2024; (24(9)):883-888 doi:10.1080/14712598.2024.2399134.

Characterization of a novel 8.2 kb deletion causing beta-thalassemia.

Wang G, Huang H, Chen L, et al.

Clinical biochemistry 2024; (133-134()):110832 doi:10.1016/j.clinbiochem.2024.110832.

Gene therapy in transfusion-dependent non-β0/β0 genotype β-thalassemia: first real-world experience of beti-cel.

Mirza A, Ritsert ML, Tao G, et al.

Blood advances 2025; (9(1)):29-38 doi:10.1182/bloodadvances.2024014104.

Prevalence and Molecular Characterization of β-Thalassemia in Kirkuk Province of Northern Iraq.

Abbas RA, Hassan RH, Taghlubee IM, et al.

Hemoglobin 2024; (48(5)):308-313 doi:10.1080/03630269.2024.2418507.

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.

Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial.

Kwiatkowski JL, Walters MC, Hongeng S, et al.

Lancet (London, England) 2024; (404(10468)):2175-2186 doi:10.1016/S0140-6736(24)01884-1.

Haploidentical Hematopoietic Stem Cell Transplantation in Pediatric Transfusion-Dependent Thalassemia: A Systematic Review and Meta-Analysis.

Xiao H, Huang Q, Lai Y, Liu R

Transplantation and cellular therapy 2025; (31(2)):101.e1-101.e12 doi:10.1016/j.jtct.2024.12.001.

Long-term efficacy and safety of luspatercept for the treatment of anaemia in patients with transfusion-dependent β-thalassaemia (BELIEVE): final results from a phase 3 randomised trial.

Cappellini MD, Viprakasit V, Georgiev P, et al.

The Lancet. Haematology 2025; (12(3)):e180-e189 doi:10.1016/S2352-3026(24)00376-4.

Risk Factors for Impaired Glucose Metabolism in Transfusion-Dependent Patients with β-Thalassemia: A Single-Center Retrospective Observational Study.

Venou TM, Kyriakidis F, Barmpageorgopoulou F, et al.

Hematology reports 2025; (17(1)) doi:10.3390/hematolrep17010006.

Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family.

Zhuang J, Zheng Y, Jiang Y, et al.

Human mutation 2023; (2023()):2766625 doi:10.1155/2023/2766625.

[Guidelines for iron chelation therapy in thalassemia in China (2025)].

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Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(4)):377-388 doi:10.7499/j.issn.1008-8830.2411001.

Mitapivat in adults with non-transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE): a phase 3, international, randomised, double-blind, placebo-controlled trial.

Taher AT, Al-Samkari H, Aydinok Y, et al.

Lancet (London, England) 2025; (406(10498)):33-42 doi:10.1016/S0140-6736(25)00635-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.

Efficacy and safety of luspatercept in non-transfusion-dependent β-thalassemia: long-term results from the BEYOND study.

Taher AT, Viprakasit V, Kattamis A, et al.

Blood advances 2025; (9(23)):6108-6119 doi:10.1182/bloodadvances.2025016554.

Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.

Rukwong P, Natesirinilkul R, Sathitsamitphong L, et al.

Annals of medicine 2025; (57(1)):2551815 doi:10.1080/07853890.2025.2551815.

Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin.

Lee DJ, Chang SP, Liao MJ, et al.

Taiwanese journal of obstetrics & gynecology 2025; (64(6)):1080-1084 doi:10.1016/j.tjog.2025.04.022.

Gene Therapies for Hemoglobinopathies: Efficacy, Cell Collection & Transfusion Support.

Inam Z, Han H, Webb J, Delaney M

Transfusion medicine reviews 2025; (39(4)):150930 doi:10.1016/j.tmrv.2025.150930.

First Report of Hb Oslo [HBB:c.127T>A; β42(CD1)Phe→Ile] from India and its Novel Compound Heterozygous Combination with IVS1-5 G>C [HBB:c.92+ 5G> C] Leading To β-Thalassemia Major.

Malik D, Thakur K, Kumar R, et al.

Cell biochemistry and biophysics 2026; (84(2)):2429-2438 doi:10.1007/s12013-026-02003-5.

Current therapeutic landscape of β-thalassemia: focus on gene therapy.

Cheng AN, Kwiatkowski JL

Therapeutic advances in rare disease 2026; (7()):26330040261433028 doi:10.1177/26330040261433028.

Spectrum of Hemoglobinopathies and Their Hematological Profiles: A Cross-sectional Study in a Rural Tertiary Care Center.

Yadav N, Kannaujia SK, Gautam A

Annals of African medicine 2026; doi:10.4103/aam.aam_766_25.

Assessment of hepatic fibrosis in Egyptian children and adolescents with beta thalassemia major: a single center study.

Elhady MA, Kaddah M, Marzouk A, et al.

European journal of pediatrics 2026; (185(7)).

Alternative conditioning regimens for hemoglobinopathy gene therapy: balancing efficacy, toxicity, and the next frontier.

Sharma A, Corbacioglu S

Blood advances 2026; (10(18)):6118-6123 doi:10.1182/bloodadvances.2026019856.

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.