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

References

• Farid Y, Bowman NS, Lecat P, editors. Biochemistry, Hemoglobin Synthesis. Treasure Island (FL): StatPearls Publishing; 2022. [Internet].
   Google Scholar
• Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(D1):D1192–D1196.
   PubMed Web of Science ®Google Scholar
• Thein SL. Molecular basis of β thalassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018;70:54–65.
   PubMed Web of Science ®Google Scholar
• Nuntakarn L, Fucharoen S, Fucharoen G, et al. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells Mol Dis. 2009;42(1):32–35.
   PubMed Web of Science ®Google Scholar
• Yamsri S, Singha K, Prajantasen T, et al. A large cohort of β(+)-thalassemia in Thailand: molecular, hematological and diagnostic considerations. Blood Cells Mol Dis. 2015;54(2):164–169.
   PubMed Web of Science ®Google Scholar
• Danjou F, Anni F, Galanello R. Beta-thalassemia: from genotype to phenotype. Haematologica. 2011;96(11):1573–1575.
   PubMed Web of Science ®Google Scholar
• Sripichai O, Munkongdee T, Kumkhaek C, et al. Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. Ann Hematol. 2008;87(5):375–379.
   PubMed Web of Science ®Google Scholar
• Sharma V, Kumar B, Kumar G, et al. Alpha globin gene numbers: an important modifier of HbE/beta thalassemia. Hematology. 2009;14(5):297–300.
   PubMed Web of Science ®Google Scholar
• Perera S, Allen A, Silva I, et al. Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka. Sci Rep. 2019;9(1):10116.
   PubMed Web of Science ®Google Scholar
• Mikobi TM, Lukusa PT, Aloni MN, et al. Association between sickle cell anemia and α thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series. J Clin Lab Anal. 2018;32(1):e22186.
   PubMed Web of Science ®Google Scholar
• Raffield LM, Ulirsch JC, Naik RP, et al.; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups. Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. PLoS Genet. 2018;14(3):e1007293.
   PubMed Web of Science ®Google Scholar
• Dash PM, Sahu PK, Patel S, et al. Effect of assorted globin haplotypes and α-thalassemia on the clinical heterogeneity of Hb S-β-thalassemia. Hemoglobin. 2018;42(4):236–242.
   PubMed Web of Science ®Google Scholar
• Abuamer S, Shome DK, Jaradat A, et al. Frequencies and phenotypic consequences of association of α- and β-thalassemia alleles with sickle-cell disease in Bahrain. Int J Lab Hematol. 2017;39(1):76–83.
   PubMed Web of Science ®Google Scholar
• Maryami F, Azarkeivan A, Fallah MS, et al. A large cohort study of genotype and phenotype correlations of beta-thalassemia in Iranian population. Int J Hematol Oncol Stem Cell Res. 2015;9(4):198–202.
   PubMedGoogle Scholar
• Shrivastava M, Bathri R, Chatterjee N. Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India. Asian J Transfus Sci. 2019;13(2):105–109.
   PubMed Web of Science ®Google Scholar
• Zhong L, Gan X, Xu L, et al. The phenomena of balanced effect between α-globin gene and of beta-globin gene. BMC Med Genet. 2018;19(1):145.
   PubMed Web of Science ®Google Scholar
• Panigrahi I, Agarwal S. Genetic determinants of phenotype in β-thalassemia. Hematology. 2008;13(4):247–252.
   PubMed Web of Science ®Google Scholar
• Nemati H, Rahimi Z, Bahrami G. The Xmn1 polymorphic site 5' to the (G)gamma gene and its correlation to the (G)gamma:(A)gamma ratio, age at first blood transfusion and clinical features in β-thalassemia patients from Western Iran. Mol Biol Rep. 2010;37(1):159–164.
   PubMed Web of Science ®Google Scholar
• Basu A, Chowdhury P, Chowdhury T, et al. Burdwan University Thalassemia Severity (BUTS) scoring system: a numerical method for defining the clinicopathological status of thalassemia patient. medRxiv. 2021. DOI:10.1101/2021.05.01.21256431
   Google Scholar
• Panja A, Chowdhury p, Chakraborty S, et al. Cross-sectional study for the detection of mutations in the beta-globin gene among patients with hemoglobinopathies in the Bengali population. Genet Test Mol Biomarkers. 2017;21(1):39–45.
   PubMed Web of Science ®Google Scholar
• Christopher AF, Kumari A, Chaudhary S, et al. Unique pattern of mutations in beta-thalassemia patients in Western Uttar Pradesh . Indian J Hum Genet. 2013;19(2):207–212.
   PubMedGoogle Scholar
• Gohari SN, Mashizi KA. A family with the 619 bp deletion on the β-globin gene found in Kerman Province, Iran . Hemoglobin. 2009;33(6):515–518.
   PubMed Web of Science ®Google Scholar
• Shaji RV, Eunice SE, Baidya S, et al. Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population. Br J Haematol. 2003;123(5):942–947.
   PubMed Web of Science ®Google Scholar
• Said F, Abdel-Salam A. XmnI polymorphism: relation to β-thalassemia phenotype and genotype in Egyptian children. Egypt J Med Hum Genet. 2015;16(2):123–127.
   Google Scholar
• Nienhuis AW, Nathan DG. Pathophysiology and clinical manifestations of the β-thalassemias. Cold Spring Harb Perspect Med. 2012;2(12):a011726.
   PubMed Web of Science ®Google Scholar
• Thom CS, Dickson CF, Gell DA, et al. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med. 2013;3(3):a011858. DOI:10.1101/2021.05.01.21256431
   PubMed Web of Science ®Google Scholar
• Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
   PubMed Web of Science ®Google Scholar
• Charoenkwan P, Teerachaimahit P, Sanguansermsri T. The correlation of α-globin gene mutations and the XmnI polymorphism with clinical severity of Hb E/β-thalassemia. Hemoglobin. 2014;38(5):335–338.
   PubMed Web of Science ®Google Scholar
• Sivalingam M, Looi ML, Zakaria SZS, et al. Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia. Int J Lab Hematol. 2012;34(4):377–382.
   PubMed Web of Science ®Google Scholar
• Winichagoon P, Fucharoen S, Chen P, et al. Genetic factors affecting clinical severity in beta-thalassemia syndromes. J Pediatr Hematol Oncol. 2000;22(6):573–580.
   PubMed Web of Science ®Google Scholar