Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β⁰ thalassemia

References

• Weatherall DJ, Clegg JB, editors. Chapter 4 The molecular pathology of the thalassaemias. In: The thassaemia syndromes. 4th ed. Oxford: Blackwell Science; 2001.
   Google Scholar
• Thein SL. Genetic modifiers of the beta-hemoglobinopathies. Br J Haematol. 2008;141(3):357–366. doi: 10.1111/j.1365-2141.2008.07084.x
   PubMed Web of Science ®Google Scholar
• Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassemia. Lancet. 2012;379(9813):373–383. doi: 10.1016/S0140-6736(11)60283-3
   PubMed Web of Science ®Google Scholar
• Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12(2):61–76. doi: 10.1097/GIM.0b013e3181cd68ed
   PubMed Web of Science ®Google Scholar
• Steinberg MH. Disorders of hemoglobin: genetics, pathophysiology, and clinical management. 2nd ed. New York (NY): Cambridge University Press; 2009.
   Google Scholar
• Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia. Indian J Med Res. 2011;134:498–506.
   PubMedGoogle Scholar
• Nuntakarn L, Fucharoen S, Fucharoen G, et al. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells Mol Dis. 2009;42(1):32–35. doi: 10.1016/j.bcmd.2008.09.002
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine. Hemoglobin. 1997;21(4):299–319. doi: 10.3109/03630269709000664
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Fucharoen G, Sriroongrueng W, et al. Molecular basis of beta-thalassemia in Thailand: analysis of beta-thalassemia mutations using the polymerase chain reaction. Hum Genet. 1989;84(1):41–46. doi: 10.1007/BF00210668
   PubMed Web of Science ®Google Scholar
• Thein SL, Hesketh C, Taylor P, et al. Molecular basis for dominantly inherited inclusion body beta-thalassemia. Proc Natl Acad Sci U S A. 1990;87(10):3924–3928. doi: 10.1073/pnas.87.10.3924
   PubMed Web of Science ®Google Scholar
• Tanphaichitr VS, Viprakasit V, Veerakul G, et al. Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy. J Pediatr Hematol Oncol. 2003;25(3):261–265. doi: 10.1097/00043426-200303000-00016
   PubMed Web of Science ®Google Scholar
• Chinchang W, Viprakasit V, Pung-Amritt P, et al. Molecular analysis of unknown beta-globin gene mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and its application in Thai families with beta-thalassemias and beta-globin variants. Clin Biochem. 2005;38(11):987–996. doi: 10.1016/j.clinbiochem.2005.07.013
   PubMed Web of Science ®Google Scholar
• Chinchang W, Viprakasit V. Further identification of Hb G-Coushatta [beta22(B4)Glu-->Ala (GAA-->GCA)] in Thailand by the polymerase chain reaction-single-strand conformation polymorphism technique and by amplification refractory mutation system-polymerase chain reaction. Hemoglobin. 2007;31(1):93–99. doi: 10.1080/03630260601059225
   PubMed Web of Science ®Google Scholar
• Viprakasit V, Tanphaichitr VS, Chinchang W, et al. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood. 2004;103(9):3296–3299. doi: 10.1182/blood-2003-11-3957
   PubMed Web of Science ®Google Scholar
• Winichagoon P, Thonglairoam V, Fucharoen S, et al. Severity differences in beta-thalassemia/hemoglobin E syndromes: implication of genetic factors. Br J Haematol. 1993;83(4):633–639. doi: 10.1111/j.1365-2141.1993.tb04702.x
   PubMed Web of Science ®Google Scholar
• St Pierre TG, et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005;105(2):855–861. doi: 10.1182/blood-2004-01-0177
   PubMed Web of Science ®Google Scholar
• Bier FF, Kleinjung F. Feature-size limitations of microarray technology–a critical review. Fresenius J Anal Chem. 2001;371(2):151–376. doi: 10.1007/s002160101003
   PubMedGoogle Scholar
• Viprakasit V, Tanphaichitr VS, Pung-Amritt P, et al. Clinical phenotypes and molecular characterization of Hb H-Pakse disease. Haematologica. 2002;87(2):117–125.
   PubMed Web of Science ®Google Scholar
• Viprakasit V, Chinchang W. Identification of hemoglobin YALA; a novel β thalassemia mutation due to thymidine deletion of codon 42 (–T) causing β0 thalassemia and its interaction with hemoglobin E. Proceedings of the Annual Scientific Meetings of the HAA. Sydney, Australia, October 2011.
   Google Scholar
• Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308–311. doi: 10.1093/nar/29.1.308
   PubMed Web of Science ®Google Scholar
• Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucl Acids Res. 2004;32(Database issue:):D537–D541. doi: 10.1093/nar/gkh006
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Winichagoon P. Clinical and hematologic aspects of hemoglobin E beta-thalassemia. Curr Opin Hematol. 2000;7(2):106–112. doi: 10.1097/00062752-200003000-00006
   PubMed Web of Science ®Google Scholar
• Kinniburgh AJ, Maquat LE, Schedl T, et al. mRNA-deficient beta o-thalassemia results from a single nucleotide deletion. Nucleic Acids Res. 1982;10(18):5421–5427. doi: 10.1093/nar/10.18.5421
   PubMed Web of Science ®Google Scholar
• el-Kalla S, Mathews AR. A novel beta-thalassemia mutation [codon 45(-T)] in a Pakistani family. Hemoglobin. 1997;21(6):499–503. doi: 10.3109/03630269708999181
   PubMed Web of Science ®Google Scholar
• Ringelhann B, Szelenyi JG, Horanyi M, et al. Molecular characterization of beta-thalassemia in Hungary. Hum Genet. 1993;92(4):385–387. doi: 10.1007/BF01247340
   PubMed Web of Science ®Google Scholar
• Landin B, Berglund S. A novel mutation in the beta-globin gene causing beta-thalassemia in a Swedish family. Eur J Haematol. 1996;57(2):182–184. doi: 10.1111/j.1600-0609.1996.tb01359.x
   PubMed Web of Science ®Google Scholar
• Meloni A, Demurtas M, Moi L, et al. A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier. Hum Mutat. 1994;3(3):309–311. doi: 10.1002/humu.1380030322
   PubMed Web of Science ®Google Scholar
• Forster L, Ardakani RM, Qadah T, et al. The effect of nonsense mediated decay on transcriptional activity within the novel β-thalassemia mutation HBB: c.129delT. Hemoglobin. 2015;39(5):334–339.
   PubMed Web of Science ®Google Scholar
• Laosombat V, Wongchanchailert M, Sattayasevana B, et al. Clinical and hematologic features of beta0-thalassemia (frameshift 41/42 mutation) in Thai patients. Haematologica. 2001;86(2):138–141.
   PubMed Web of Science ®Google Scholar
• Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G gamma globin production. Blood. 1985;66(4):783–787.
   PubMed Web of Science ®Google Scholar
• Nuinoon M, Makarasara W, Mushiroda T, et al. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. Hum Genet. 2010;127(3):303–314. doi: 10.1007/s00439-009-0770-2
   PubMed Web of Science ®Google Scholar
• Olivieri NF, Pakbaz Z, Vichinsky E. Hb E/beta-thalassaemia: a common & clinically diverse disorder. Indian J Med Res. 2011;134: 522–531.
   PubMedGoogle Scholar
• Cappellini MD, Porter JB, Musallam KM, et al. Development of a new disease severity scoring system for patients with non-transfusion-dependent thalassemia. Eur J Intern Med. 2016;28:91–96. doi: 10.1016/j.ejim.2015.10.003
   PubMed Web of Science ®Google Scholar