Page 83 - IJPS-8-2
P. 83
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

