BETA-THALASSEMIA: THE STATE OF THE PROBLEM AND PROSPECTS (REVIEW)
Keywords:
β-thalassemia, mutations, diagnosis, preventionAbstract
The article analyzes the information accumulated to date on the incidence, prevalence, pathogenesis and features of the course of β-thalassemia, and also provides a brief overview of the main clinical methods for the diagnosis and treatment of this hemoglobinopathy. Literature data show that the problem of β-thalassemia remains medically and socially relevancy primarily for the countries of the Asian and Mediterranean regions. Measures of fighting with β-thalassemia in modern conditions are aimed not only at finding effective, safe and cost-effective ways to treat this disease, but also at developing screening programs of preventive orientation that allow identifying asymptomatic carriers of the pathology. The development of effective methods of diagnosis and prevention is based on an understanding of the molecular basis of the pathogenesis of β-thalassemia. Knowledge of the population-determined spectrum of the most significant and unique mutations for the region will prevent the birth of children with a severe form of the disease.
References
Needs T, Gonzalez-Mosquera LF, Lynch DT. Beta Thalassemia. 2022 May 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. PMID: 30285376.
Makis A, Hatzimichael E, Papassotiriou I, Voskaridou E. 2017 Clinical trials update in new treatments of β-thalassemia. Am J Hematol. 2016 Nov;91(11):1135-1145. doi: 10.1002/ajh.24530. PMID: 27502996.
Hu S, Zhan W, Wang J, Xie J, Zhou W, Yang X, et al. Establishment and application of a novel method based on single nucleotide polymorphism analysis for detecting β-globin gene cluster deletions. Sci Rep. 2020 Oct 26;10(1):18298. doi: 10.1038/s41598-020-75507-6. PMID: 33106596.
De Sanctis V, Kattamis C, Canatan D, Soliman AT, Elsedfy H, Karimi M, et al. β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint. Mediterr J Hematol Infect Dis. 2017 Feb 20;9(1):e2017018. doi: 10.4084/MJHID.2017.018. PMID: 28293406.
Murad H, Moasses F, Dabboul A, Mukhalalaty Y, Bakoor AO, Al-Achkar W, et al. Geographical distribution of β-globin gene mutations in Syria. Hematology. 2018 Oct;23(9):697-704. doi: 10.1080/10245332.2018.1461291. PMID: 29637841.
Gunes AK, Gozden HE. The Spectrum of Beta-Thalassemia Mutations in Syrian Refugees and Turkish Citizens. Cureus. 2021 Jun 4;13(6):e15434. doi: 10.7759/cureus.15434. PMID: 34258108.
Thein SL. Molecular basis of β thalassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018 May;70:54-65. doi: 10.1016/j.bcmd.2017.06.001. PMID: 28651846
Cabriolu A, Odak A, Zamparo L, Yuan H, Leslie CS, Sadelain M. Globin vector regulatory elements are active in early hematopoietic progenitor cells. Mol Ther. 2022 Mar 2:S1525-0016(22)00156-3. doi: 10.1016/j.ymthe.2022.02.028. PMID: 35247584.
Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One. 2014 Jul 24;9(7):e103020. doi: 10.1371/journal.pone.0103020. PMID: 25058394.
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD. Laboratory diagnosis of thalassemia. Int J Lab Hematol. 2016 May;38 Suppl 1:32-40. doi: 10.1111/ijlh.12527. PMID: 27183541.
Akbarova G. History of the study and solution to the problem of β-thalassemia in azerbaijan // Journal of clinical medicine of Kazakhstan. –2013. –V.4, №30. –р.21-28.
Uludağ A, Uysal A, Uludağ A, Ertekin YH, Tekin M, Kütük B, et al. Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey. Balkan J Med Genet. 2016 Aug 2;19(1):29-34. doi: 10.1515/bjmg-2016-0004. PMID: 27785405.
Aydınok Y, Oymak Y, Atabay B, Aydoğan G, Yeşilipek A, Ünal S, et al. A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention. Turk J Haematol. 2018 Mar 1;35(1):12-18. doi: 10.4274/tjh.2017.0039. PMID: 28404539.
Alsaeed ES, Farhat GN, Assiri AM, Memish Z, Ahmed EM, Saeedi MY, et al. Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011-2015. J Epidemiol Glob Health. 2018 Mar;7 Suppl 1(Suppl 1):S41-S47. doi: 10.1016/j.jegh.2017.12.001. PMID: 29801592.
Mahajan PS, Kolleri JJ, Ait Souabni S, Prasad S, Belhaddad EH, Mohammed H. Report of a Rare Case of Beta-Thalassemia Major With Subperiosteal Hematomas. Cureus. 2022 Apr 2;14(4):e23770. doi: 10.7759/cureus.23770. PMID: 35509765.
Sabath DE. Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review. Am J Clin Pathol. 2017 Jul 1;148(1):6-15. doi: 10.1093/ajcp/aqx047. PMID: 28605432.
Origa R. β-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. PMID: 27811859.
Munkongdee T, Chen P, Winichagoon P, Fucharoen S, Paiboonsukwong K. Update in Laboratory Diagnosis of Thalassemia. Front Mol Biosci. 2020 May 27;7:74. doi: 10.3389/fmolb.2020.00074. PMID: 32671092.
Chen P, Yu X, Huang H, Zeng W, He X, Liu M, et al. Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis. J Int Med Res. 2020 Dec;48(12):300060520967778. doi: 10.1177/0300060520967778. PMID: 33342339.
Karimi M, Cohan N, De Sanctis V, Mallat NS, Taher A. Guidelines for diagnosis and management of Beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014 Oct;31(7):583-96.
Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, et al. Current status of beta-thalassemia and its treatment strategies. Mol Genet Genomic Med. 2021 Dec;9(12):e1788. doi: 10.1002/mgg3.1788. PMID: 34738740.
Saliba A, Taher A. Iron overload in transfusion-dependent thalassemia. Hematology. 2015 Jun;20(5):311-2. doi: 10.1179/1024533215Z.000000000365. PMID: 25967377.
Siri-Angkul N, Chattipakorn SC, Chattipakorn N. Diagnosis and treatment of cardiac iron overload in transfusion-dependent thalassemia patients. Expert Rev Hematol. 2018 Jun;11(6):471-479. doi: 10.1080/17474086.2018.1476134. PMID: 29754517.
Şanlidağ B, Çağin B, Özenli Ö, Şahaloğlu Ö, Dalkan C, Galip N, et al. Prevalence of Thalassemia Trait & Iron Deficiency Anemia during Infancy in 2011-2013 in a Thalassemia Prevalent Region: North Cyprus. Iran J Public Health. 2016 Aug;45(8):1038-1043. PMID: 27928530.
