References
- Weatherall DJ, Clegg JB. Thalassaemia — a global public health problem. Nat Med. 1996;2(8):847–849
- Amendola G, Danise P, Di Palma A, et al. Homozygous Hemoglobin-E (Hb-EE) disease (in Italian). Pediatr Med Chir. 2004;26(1):65–67
- Piplani S. Hemoglobin E disorders in the north east India. J Assoc Physicians India. 2000;48(11):1082–1084
- Fucharoen S, Winichagoon P. Clinical and hematologic aspects of Hemoglobin E β-thalassemia. Curr Opin Hematol. 2000;7(2):106–112
- Tachavanich K, Viprakasit V, Chinchang W, et al. Clinical and hematological phenotype of homozygous Hemoglobin E: Revisit of a benign condition with hidden reproductive risk. Southeast Asian J Trop Med Public Health. 2009;40(2):306–316
- Edison ES, Shaji RV, Srivastava A, Chandy M. Hyperbilirubinemia in homozygous Hb E disease is associated with the UGT1A1 gene polymorphism. Hemoglobin. 2005;29(3):189–195
- Patne SC, Shukla J. Hemoglobin E disorders in Eastern Uttar Pradesh. Indian J Pathol Microbiol. 2009;52(1):110–112
- Maggio A, Giambona A, Cai SP, et al. Rapid and simultaneous typing of Hemoglobin S, Hemoglobin C, and seven Mediterranean β-thalassemia mutations by covalent reverse dot-blot analysis: Application to prenatal diagnosis in Sicily. Blood. 1993;81(1):239–242
- Shaji RV, Eunice SE, Baidya S, et al. Determination of the breakpoint and molecular diagnosis of a common α-thalassaemia-1 deletion in the Indian population. Br J Haematol. 2003;123(5):942–947
- Bhattacharya G, Sarkar AA, Banerjee D, et al. Polymerase chain reaction-based search for two α-globin gene mutations in India. Hemoglobin. 2008;32(5):485–490
- Semenza GL, Malladi P, Surrey S, et al. Detection of a novel DNA polymorphism in the β-globin gene cluster. J Biol Chem. 1984;259(10):6045–6048
- Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66–69
- 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
- Berg PE, Mittelman M, Elion J, et al. Increased protein binding to a −530 mutation of the human β-globin gene associated with decreased β-globin synthesis. Am J Hematol. 1991;36(1):42–47
- Sampietro M, Lupica L, Perrero L, et al. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol. 1997;99(2):437–439
- Wong SC, Ali MA. Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α-thalassemia. Am J Hematol. 1982;13(1):15–21
- Taher A, Isma’eel H, Cappellini MD. Thalassemia intermedia: Revisited. Blood Cells Mol Dis. 2006;37(1):12–20
- Taher AT, Musallam KM, Cappellini MD. Thalassaemia intermedia: An update. Mediterr J Hematol Infect Dis. 2009;1(1):e2009004. doi: 10.4084/MJHID.2009.004
- Winichagoon P, Thonglairoam V, Fucharoen S, et al. Severity differences in β-thalassaemia/Haemoglobin E syndromes: Implication of genetic factors. Br J Haematol. 1993;83(4):633–639
- Winichagoon P, Fucharoen S, Chen P, Wasi P. Genetic factors affecting clinical severity in β-thalassemia syndromes. J Pediatr Hematol Oncol. 2000;22(6):573–580
- Thein SL. Genetic association studies in β-hemoglobinopathies. Hematology Am Soc Hematol Educ Program. 2013;2013:354–361
- Garner C, Mitchell J, Hatzis T, et al. Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. Am J Hum Genet. 1998;62(6):1468–1474
- Thein SL. Genetic modifiers of β-thalassemia. Haematologica. 2005;90(5):649–660
- Sankaran VG, Menne TF, Xu J, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008;322(5909):1839–1842
- Jiang J, Best S, Menzel S, et al. cMYB is involved in the regulation of fetal hemoglobin production in adults. Blood. 2006;108(3):1077–1083
- Lettre G, Sankaran VG, Bezerra MA, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci USA. 2008;105(33):11869–11874
- Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian β0 thalassemia by genetic modifiers. Blood. 2009;114(18):3935–3937
- Nguyen TK, Joly P, Bardel C, et al. The XmnI Gγ polymorphism influences Hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 β-thalassemia intermedia patients. Blood Cells Mol Dis. 2010;45(2):124–127
- Pakdee N, Yamsri S, Fucharoen G, et al. Variability of Hemoglobin F expression in Hemoglobin EE disease: Hematological and molecular analysis. Blood Cells Mol Dis. 2014;53(1–2):11–15
- Ohashi J, Naka I, Patarapotikul J, et al. Extended linkage disequilibrium surrounding the Hemoglobin E variant due to malarial selection. Am J Hum Genet. 2004;74(6):1198–1208