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International Journal of
            Population Studies                                             β-thalassemia mutations in Himalayan population



            Cao A & Kan YW. (2013). The prevention of thalassemia. Cold   testing of beta-thalassemia patients of Indian origin and a
               Spring Harbor Perspectives in Medicine, 3(2):a011775.   novel 8-bp deletion mutation at codons 36/37/38/39. Genetic
                                                                  Testing, 7(2):163-168.
               https://doi.org/10.1101/cshperspect.a011775
                                                                  https://doi.org/10.1089/109065703322146894
            Chakrabarti P, Gupta R, Mishra A, et al. (2005). Spectrum
               of beta-thalassemia mutations in North Indian states:   Haritha P, Lakshmi V, Veerraju P,  et  al. (2012). Prevalence of
               A beta-thalassemia trait with two mutations in cis. Clinical   haemoglobinopathies  among  the  Konda  Kammaras  of
               Biochemistry, 38(6):576-578.                       Vishakhapatnam district, Andhra  Pradesh.  Journal of
                                                                  Pharmaceutical and Biological Sciences, 2(4):6-8.
               https://doi.org/10.1016/j.clinbiochem.2005.03.002
                                                               Jawahirani A, Mamtani M, Das K, et al. (2007). Prevalence of
            Christopher AF, Kumari A, Chaudhary S, et al. (2013). Unique
               pattern of mutations in β-thalassemia patients in Western   beta-thalassaemia in subcastes of Indian Sindhis: Results
               Uttar  Pradesh.  Indian  Journal of  Human  Genetics,   from a two-phase survey. Public Health, 121(3):193-198.
               19(2):207-212.                                     https://doi.org/10.1016/j.puhe.2006.10.017
               https://doi.org/10.4103/0971-6866.116119        Kazazian HH Jr., Orkin SH, Antonarakis SE, et al. (1984). Molecular
                                                                  characterization  of  seven  beta-thalassemia  mutations  in
            Colah R, Gorakshakar A, Nadkarni A,  et al. (2009). Regional
               heterogeneity of beta-thalassemia mutations in the multi   Asian Indians. The EMBO Journal, 3(3):593-596.
               ethnic Indian population.  Blood Cells Molecules and      https://doi.org/10.1002/j.1460-2075.1984.tb01853.x
               Diseases, 42(3):241-246.
                                                               Kukreti R, Dash D, Vineetha KE, et al. (2002). Spectrum of beta-
               https://doi.org/10.1016/j.bcmd.2008.12.006         thalassemia mutations and their association with allelic
                                                                  sequence polymorphisms  at the  beta-globin  gene  cluster
            Colah R, Gorakshakar A, Phanasgaonkar S,  et al. (2010).   in an Eastern Indian population.  American Journal of
               Epidemiology of beta-thalassaemia in Western India:
               Mapping the frequencies and mutations in sub-regions of   Hematology, 70(4):269-277.
               Maharashtra and Gujarat.  British Journal of Haematology,      https://doi.org/10.1002/ajh.10117
               149(5):739-747.
                                                               Kumar R, Arya V, Agarwal S. (2015). Profiling β Thalassemia
               https://doi.org/10.1111/j.1365-2141.2010.08131     mutations in consanguinity and nonconsanguinity for
                                                                  prenatal screening and awareness programme. Advances in
            De M, Das SK, Bhattacharya DK, et al. (1997). The occurrence
               of beta-thalassemia mutation and its interaction with   Hematology, 2015:625721.
               hemoglobin E in the Eastern India. International Journal of      https://doi.org/10.1155/2015/625721
               Hematology, 66(1):31-34.
                                                               Little S. (2001). Amplification-refractory mutation system
               https://doi.org/10.1016/s0925-5710(97)00585-9      (ARMS) analysis of point mutations.  Current Protocols in
                                                                  Human Genetics, Chapter 9:Unit 9.8.
            De Sanctis V, Kattamis C, Canatan D, et al. (2017). β-Thalassemia
               Distribution in the old world: An ancient disease seen from a      https://doi.org/10.1002/0471142905.hg0908s07
               historical standpoint. Mediterranean Journal of Hematology   Madan N, Sikka M, Sharma S, et al. (1998). Phenotypic expression
               and Infectious Diseases, 9(1):e2017018.
                                                                  of hemoglobin A2 in beta-thalassemia trait with iron
               https://doi.org/10.4084/MJHID.2017.018             deficiency. Annals of Hematology, 77(3):93-96.
            Edison ES, Shaji RV, Devi SG,  et al. (2008). Analysis of beta      https://doi.org/10.1007/s002770050421
               globin mutations in the Indian population: Presence of rare   Mohanty D, Colah RB, Gorakshakar AC, et al. (2013). Prevalence
               and novel mutations and region-wise heterogeneity. Clinical   of  β-thalassemia and other haemoglobinopathies in six
               Genetics, 73(4):331-337.
                                                                  cities in India: A multicentre study. Journal of Community
               https://doi.org/10.1111/j.1399-0004.2008.00973.x   Genetics, 4(1):33-42.
            Garewal G & Das R. (2003). Spectrum of β-thalassemia mutations      https://doi.org/10.1007/s12687-012-0114-0
               in  Punjabis.  International Journal of Human Genetics,   Mulchandani DV, Fulare MB, Zodpey SP, et al. (2008). Prevalence
               3(4):217-219.
                                                                  and some epidemiological factors of beta thalassaemia trait
               https://doi.org/10.1080/09723757.2003.11885855     in Sindhi community of Nagpur city, India. Indian Journal of
                                                                  Public Health, 52(1):11-15.
            Grow K, Vashist M, Abrol P, et al. (2014). Beta thalassemia in
               India: Current status and the challenges ahead. International   Nagar R, Sinha S & Raman R. (2015). Haemoglobinopathies in
               Journal of Pharmacy and Pharmaceutical Sciences,   eastern Indian states: A demographic evaluation. Journal of
               6(4):28-33.                                        Community Genetics, 6(1):1-8.
            Gupta A, Hattori Y, Gupta UR, et al. (2003). Molecular genetic      https://doi.org/10.1007/s12687-014-0195-z


            Volume 8 Issue 2 (2022)                         77                     https://doi.org/10.36922/ijps.v8i2.324
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