References
- Scianò F, Bramanti B, Gualdi-Russo E. A new investigative strategy to diagnose β-thalassemia syndrome in past human populations. Archaeol Anthropol Sci. 2021;13(2). doi: 10.1007/s12520-020-01261-5
- Fucharoen S, Winichagoon P. Hemoglobinopathies in southeast asia: molecular biology and clinical medicine. Hemoglobin. 1997;21(4):299–319. doi: 10.3109/03630269709000664
- Walters MC, Chui DHK, Farrell JJ, et al. Response of patients with transfusion-dependent β-thalassemia (TDT) to betibeglogene autotemcel (beti-cel; lentiglobin for β-thalassemia) gene therapy based on HBB genotype and disease genetic modifiers. Blood. 2020;136(Supplement 1):1–3. doi: 10.1182/blood-2020-137642
- Yi P, Yu F, Huang S, et al. Identification of a novel frameshift mutation at codon 53 (−T) in the β-globin gene causing dominantly inherited β-thalassemia in a chinese miao family. Blood Cells Mol Dis. 2008;41:56–59. doi: 10.1016/j.bcmd.2008.02.001
- Khateeb B, Moatter T, Shaghil AM, et al. Genetic diversity of beta-thalassemia mutations in Pakistani population. J Pak Med Assoc. 2000;50:293–296.
- Singer SJ, Gaba DM, Geppert JJ, et al. The culture of safety: Results of an organization-wide survey in 15 California hospitals. Qual Saf Heal Care. 2003;12:112–118. doi: 10.1136/qhc.12.2.112
- Thein SL, Menzel S, Lathrop M, et al. Control of fetal hemoglobin: New insights emerging from genomics and clinical implications. Hum Mol Genet. 2009;18(R2):R216–R223. doi: 10.1093/hmg/ddp401
- Gasperini D, Perseu L, Melis MA, et al. Heterozygous β-thalassemia with thalassemia intermedia phenotype. Am J Hematol. 1998;57(1):43–47. doi: 10.1002/(SICI)1096-8652(199801)57:1<43:AID-AJH7>3.0.CO;2-1
- Khan J, Ahmad N, Siraj S, et al. Genetic determinants of β-thalassemia intermedia in Pakistan. Hemoglobin. 2015;39(2):95–101. doi: 10.3109/03630269.2014.1002136
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215–1215. doi: 10.1093/nar/16.3.1215
- Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004;11(2–3):377–394. doi: 10.1089/1066527041410418
- Yang J, Yan R, Roy A, et al. The I-TASSER suite: protein structure and function prediction. Nat Methods. 2014;12:7–8. doi: 10.1038/nmeth.3213
- Kozakov D, Hall DR, Xia B, et al. The ClusPro web server for protein–protein docking. Nat Protoc. 2017;12:255–278. doi: 10.1038/nprot.2016.169
- Szklarczyk D, Gable AL, Nastou KC, et al. Correction to ‘The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets’. Nucleic Acids Res. 2021;49:10800–10800. doi: 10.1093/nar/gkab835
- Schiffrin B, Radford SE, Brockwell DJ, et al. PyXlinkViewer: A flexible tool for visualization of protein chemical crosslinking data within the PyMOL molecular graphics system. Protein Sci. 2020;29(8):1851–1857. doi: 10.1002/pro.3902
- Laskowski RA, Swindells MB. LigPlot+: multiple ligand–protein interaction diagrams for drug discovery. J Chem Inf Model. 2011;51:2778–2786. doi: 10.1021/ci200227u
- Pettersen EF, Goddard TD, Huang CC, et al. UCSF Chimera - a visualization system for exploratory research and analysis. J Comput Chem. 2004;25:1605–1612. doi: 10.1002/jcc.20084
- Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2(9):a011692–a011692. doi: 10.1101/cshperspect.a011692
- Ahmed S, Saleem M, Modell B, et al. Screening extended families for genetic hemoglobin disorders in Pakistan. N Engl J Med. 2002;347(15):1162–1168. doi: 10.1056/NEJMsa013234
- Hussain A, Ahmed S, Ali N, et al. Rare β-globin gene mutations in Pakistan. Hemoglobin. 2017;41(2):100–103. doi: 10.1080/03630269.2017.1339612
- Rahim F, Abromand M. Spectrum of β-thalassemia mutations in various ethnic regions of Iran. Pak J Med Sci. 2008;24(3):410–415.
- Khan MS, Ahmed M, Khan RA, et al. Consanguinity ratio in β-thalassemia major patients in district Bannu. J Pak Med Assoc. 2015;65(11):1161–1163.
- Shakeel M, Arif M, Rehman SU, et al. Investigation of molecular heterogeneity of β-thalassemia disorder in district charsadda of Pakistan. Pak J Med Sci. 2016;32:491–494.
- Shakeel M, Ishfaq M, Rehman SU, et al. Monitoring molecular heterogeneity of β-thalassemia syndrome in district Nowshehra. Sci Technol Dev. 2016;35:42–46. doi: 10.3923/std.2016.42.46
- Ahmed M, Ahmed M, Ansari S, et al. Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications. Indian J Hum Genet. 2012;18:18. doi: 10.4103/0971-6866.100762
- Schmugge M, Waye JS, Basran RK, et al. THE Hb S/β + -thalassemia phenotype demonstrates That the IVS-I (−2) (A>c) mutation is a Mild β-Thalassemia Allele. Hemoglobin. 2008;32:303–307. doi: 10.1080/03630260802004459
- Danjou F, Anni F, Perseu L, et al. Genetic modifiers of -thalassemia and clinical severity as assessed by age at first transfusion. Haematologica. 2012;97:989–993. doi: 10.3324/haematol.2011.053504