Mondal SK, Mandal S (2016) Prevalence of Thalassemia and hemoglobinopathy in eastern India: a 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfus Sci 10(1):105–110
Article CAS PubMed PubMed Central Google Scholar
Rao E, Kumar Chandraker S, Singh M, M., Kumar R (2024) Global distribution of β-thalassemia mutations: an update. Gene 896:148022. https://doi.org/10.1016/j.gene.2023.148022
Article CAS PubMed Google Scholar
Yadav SS, Panchal P, Menon KC (2022) Prevalence and management of β-Thalassemia in India. Hemoglobin 46(1):27–32. https://doi.org/10.1080/03630269.2021.2001346
Article CAS PubMed Google Scholar
Nagar R, Sinha S, Raman R (2015) Haemoglobinopathies in eastern Indian states: a demographic evaluation. J Community Genet 6(1):1–8. https://doi.org/10.1007/s12687-014-0195-zEpub 2014 Jul 25. PMID: 25059538; PMCID: PMC4286564
Moirangthem A, Phadke SR (2018) Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia. Indian J Pediatr 85(2):102–107. https://doi.org/10.1007/s12098-017-2478-y
Jaing TH, Chang TY, Chen SH, Lin CW, Wen YC, Chiu CC (2021) Molecular genetics of β-thalassemia: a narrative review. Medicine 100(45):e27522. https://doi.org/10.1097/MD.0000000000027522
Article CAS PubMed PubMed Central Google Scholar
Sinha S, Black ML, Agarwal S, Colah R, Das R, Ryan K, Bellgard M, Bittles AH (2009) Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. Hugo J 3(1–4):51–62. https://doi.org/10.1007/s11568-010-9132-3Epub 2010 Feb 10. PMID: 21119755; PMCID: PMC2882644
Article CAS PubMed Google Scholar
Panigrahi I, Marwaha RK (2007) Mutational spectrum of thalassemias in India. Indian J Hum Genet 13(1):36–37. https://doi.org/10.4103/0971-6866.32034PMID: 21957341; PMCID: PMC3168153
Article CAS PubMed PubMed Central Google Scholar
Hamid M, Shariati G, Saberi A, Kaikhaei B, Galehdari H, Mohammadi-Anaei M (2013) Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran. Arch Iran Med 16(9):563–564
Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L (2016) The molecular characterization of Beta globin gene in Thalassemia patients reveals rare and a novel mutations in Pakistani population. Eur J Med Genet 59(8):355–362. https://doi.org/10.1016/j.ejmg.2016.05.016
11Bhattacharjee S, Ghosh S, Ray R, Bhattacharyya M (2023) Rare mutations in the beta-globin gene and their clinical phenotypes. J Hematol Allied Sci 3:18–24
Gonzalez-Redondo JM, Stoming TA, Kutlar F, Kutlar A, Hu H, Wilson JB, Huisman TH (1989) Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron. Hemoglobin. ;13(1):67–74. https://doi.org/10.3109/03630268908998053. PMID: 2539344
Agarwal N, Kutlar F, Mojica-Henshaw MP, Ou CN, Gaikwad A, Reading NS, Bailey L, Kutlar A, Prchal JT (2007) Missense mutation of the last nucleotide of exon 1 (G->C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. Haematologica. ;92(12):1715-6. https://doi.org/10.3324/haematol.11543. PMID: 18056002
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