Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India

References

• Flint J, Harding RM, Boyce AJ, et al. The population genetics of the hemoglobinopathies. Bailliere’s Clin. 1998;11(1):1–51.
   PubMed Web of Science ®Google Scholar
• Vichinsky EP, MacKlin EA, Waye JS, et al. Changes in the epidemiology of thalassemia in North America: a new minority disease. Pediatrics. 2005;116(6):e818–e825.
   PubMed Web of Science ®Google Scholar
• Rund D, Rachmilewitz E. β-Thalassemia. N Engl J Med. 2005;353(11):1135–1146.
   PubMed Web of Science ®Google Scholar
• Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5(1):1–15.
   PubMedGoogle Scholar
• Weatherall D. The thalassemias: the role of molecular genetics in an evolving global health problem. Am J Hum Genet. 2004;74(3):385–392.
   PubMed Web of Science ®Google Scholar
• Makhoul NJ, Wells RS, Kaspar H, et al. Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet. 2005;69(Pt 1):55–66.
   PubMed Web of Science ®Google Scholar
• Agouti I, Badens C, Abouyoub A, et al. Molecular basis of β-thalassemia in Morocco: Possible origins of the molecular heterogeneity. Genet Test. 2008;12(4):563–568.
   PubMedGoogle Scholar
• Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021; 49(D1):D1192–D1196.
   PubMed Web of Science ®Google Scholar
• Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–487.
   PubMed Web of Science ®Google Scholar
• Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010;3(1):103–117.
   PubMed Web of Science ®Google Scholar
• Ambekar SS, Phadke MA, Mokashi GD, et al. Pattern of hemoglobinopathies in Western Maharashtra. Indian Pediatr. 2021; 38:530–534.
   Google Scholar
• Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: The road map for control. Pediatr Hematol Oncol J. 2017; 2 (4):79–84.
   Google Scholar
• Kazazian HJ, Boehm CD. Molecular basis and prenatal diagnosis of beta-thalassemia. Am Soc Hematol. 1988; 2:1107–1116.
   Google Scholar
• Old JM. Hemoglobinopathies: Community Clues to Mutation Detection. Methods Mol Med. 1996; 5:169–183.
   PubMedGoogle Scholar
• Hanchard N, Elzein A, Trafford C, et al. Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations. BMC Genet. 2007; 8(1):1.
   PubMedGoogle Scholar
• Orkin SH, Kazazian HH, Antonarakis SE, et al. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 1982;296(5858):627–631.
   PubMed Web of Science ®Google Scholar
• Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74(12):5463–5467.
   PubMed Web of Science ®Google Scholar
• Grewal NK, Sodhi C, Sobti P. To study the quality of life and its relation with socioeconomic status in thalassemic adolescents in a tertiary care center. CHRISMED J Health Res. 2017;4(1):33.
   Google Scholar
• Ayoub MD, Radi SA, Azab AM, et al. Quality of life among children with beta-thalassemia major treated in Western Saudi Arabia. Saudi Med J. 2013; 34:1281–1286.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Agarwal S, Hattori Y, Agarwal SS. Rare β‐thalassemia mutations in Asian Indians. Am J Hematol. 2000;65(4):322–323.
   PubMed Web of Science ®Google Scholar
• Ambekar SS, Phadke MA, Balpande DN, et al. The prevalence and heterogeneity of beta thalassemia mutations in the western Maharashtra population: a hospital based study. Int J Hum Genet. 2001;1(3):219–223.
   Google Scholar
• Sinha S, Black ML, Agarwal S, et al. Profiling β-thalassemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. Hugo J. 2009;3(1-4):51–62.
   PubMedGoogle Scholar
• Verma IC, Saxena R, Thomas E, et al. Regional distribution of β-thalassemia mutations in India. Hum Genet. 1997;100(1):109–113.
   PubMed Web of Science ®Google Scholar
• Gray GR, Manson HE, Gu LH, et al. Hb lulu island (α2β2107 [G9] Gly→ Asp) ‐ β°‐thalassemia (codon 15; TGG→ TAG), a form of thalassemia intermedia. Am J Hematol. 1995;50(1):26–29.
   PubMed Web of Science ®Google Scholar
• Sahoo SS, Biswal S, Dixit M. Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population. Hemoglobin. 2014;38(1):33–38.
   PubMed Web of Science ®Google Scholar
• Garel MC, Blouquit Y, Rosa J, et al. Hemoglobin Castilla beta 32 (B14) Leu leads to Arg; a new unstable variant producing severe hemolytic disease. FEBS Lett. 1975;58(1):144–148.
   PubMed Web of Science ®Google Scholar
• Kagimoto T, Morino Y, Kishimoto S. A new hemoglobin variant: HB yatsushiro α2Aβ260Val→ Leu. Biochim Biophys Acta. 1978;532(1):195–198.
   PubMedGoogle Scholar
• Fay KC, Brennan SO, Costello JM, et al. Haemoglobin Manukau beta 67[E11] Val–>Gly: transfusion-dependent hemolytic anemia ameliorated by coexisting alpha thalassaemia. Br J Haematol. 1993;85(2):352–355.
   PubMed Web of Science ®Google Scholar
• Lacombe C, Prome D, Blouquit Y, et al. New Results of Hemoglobin Variant Structure Determinats by Fast Atom Bombardment Mass Spectrometry. Hemoglobin. 1990;14(5):529–548.
   PubMed Web of Science ®Google Scholar
• Rund D, Cohen T, Filon D, et al. Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. Proc Natl Acad Sci U S A. 1991;88(1):310–314.
   PubMed Web of Science ®Google Scholar
• Junca J, Villegas A, Ropero P, et al. Characterization of a new hemoglobin variant: Hb Badalona (β31 [B13] Leu→ Val). Ann Hematol. 2002;81(4):179–181.
   PubMed Web of Science ®Google Scholar
• Bergman AC, Beshara S, Byman I, et al. A New β-Chain Variant: Hb Stockholm [β 7 (A4) Glu→ Asp] Causes Falsely Low Hb A1c. Hemoglobin. 2009;33(2):137–142.
   PubMed Web of Science ®Google Scholar