References
- Weatherall DJ, Clegg JB. The Thalassaemia Syndromes. Oxford, Oxfordshire, UK: Blackwell Science, 2001.
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu).
- Cao A, Galanello R. β-Thalassemia. Genet Med. 2010;12(2):61–76.
- Flint J, Harding RM, Boyce AJ, Clegg JB. The population genetics of the haemoglobinopathies. Bailliére’s Clin Haematol. 1993;6(1):215–262.
- Khattak MF and Saleem M. Prevalence of heterozygous β-thalassaemia in the Northern areas of Pakistan. J Pak Med Assoc. 1992;42(1):32–34.
- Black ML, Sinha S, Agarwal S, et al. A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka. J Community Genet. 2010;1(3):149–157.
- Ahmed S, Petrou M, Saleem M. Molecular genetics of β-thalassaemia in Pakistan: a basis for prenatal diagnosis. Br J Haematol. 1996;94(3):476–482.
- Khan SN, Zafar AU, Riazuddin S. Molecular genetic diagnosis of β thalassemia in Pakistan J Pak Med Assoc. 1995;45(3):66–70.
- Khateeb B, Moatter T, Shaghil AM, et al. Genetic diversity of β-thalassemia mutations in Pakistani population. J Pak Med Assoc. 2000;50(9):293–296.
- Usman M, Moinuddin M, Ghani R, Usman S. Screening of five common β thalassemia mutations in the Pakistani population: a basis for prenatal diagnosis. Sultan Qaboos Univ Med J. 2009;9(3):305–310.
- Ansari SH, Shamsi SH, Ashraf M, et al. Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications. Indian J Hum Genet. 2012;18(2):193–197.
- Khattak SA, Ahmed S, Anwar J, et al. Prevalence of various mutations in β thalassaemia and its association with haematological parameters. J Pak Med Assoc. 2012;62(1):40–43.
- Yasmeen H,Toma S, Killeen N, et al. The molecular characterization of β globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population. Eur J Med Genet. 2016;59(8):355–362.
- Ahmed S, Saleem M, Petrou M, et al. Prenatal diagnosis of β-thalassaemia in Pakistan: experience in a Muslim country. Prenat Diagn. 2000;20(5):378–383.
- Ahmed S. Prenatal diagnosis of β-thalassaemia: twelve years experience at a single laboratory in Pakistan. Prenat Diagn 2007;27(13):1224–1227.
- Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic haemoglobin disorders in Pakistan. N Engl J Med. 2002;347(15):1162–1168.
- Moatter T, Kausar T, Aban M, et al. Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population. Int J Hematol. 2012;95(4):394–398.
- Old JM, Heath C, Fitches A, et al. First trimester fetal diagnosis for haemoglobinopathies: report on 200 cases. Lancet. 1986;2(8510):763–769.
- Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature. 1982;296(5858):627–631.
- Xu X, Liao C, Liu Z, et al. A novel amber mutation in a β0-thalassaemia gene (β37TGG→TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA. Br J Haematol. 1995;90(4):960–962.
- Kornblit B, Taaning P, Birgens H. β-Thalassemia due to a novel nonsense mutation at codon 37 (TGG→TAG) found in an Afghanistani family. Hemoglobin. 2005;29(3):209–213.
- El-Shanshory M, Hagag A, Shebl S, et al. Spectrum of β globin gene mutations in Egyptian children with β-thalassemia. Mediterr J Hematol Infect Dis. 2014;6(1):e2014071. doi: 10.4084.MJHID.2014.071.
- Cao A, Galanello R Rosatelli MC. Genotype-phenotype correlations in β-thalassaemias. Blood Rev. 1994;8(1):1–12.
- Gorakshakar AC, Phanasgaonkar SP, Nadkarni AH, et al. Detection of rare β-thalassemia mutations by denaturing gradient gel electrophoresis among Indians. Hemoglobin. 2004;28(1):15–24.
- Gorakshakar A, Sathe P, Colah R, et al. Hemoglobin Showa-Yakushiji: a common β thalassemia mutation among the Agri community from Western India. Genet Test Mol Biomarkers. 2012;16(4):302–305.
- Nadkarni A, Gorakshakar A, Surve R, et al. Hematological and molecular analysis of novel and rare β-thalassemia mutations in the Indian population. Hemoglobin. 2009;33(1):55–59.
- Colah R, Gorakshakar A, Nadkarni A, et al. Regional heterogeneity of β-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis. 2009;42(3):241–246.
- Kobayashi Y, Fukumaki Y, Komatsu N, et al. A novel globin structural mutant, Showa-Yakushiji (β110 Leu-Pro) causing a β-thalassemia phenotype. Blood. 1987;70(5):1688–1691.