Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 2
40
Views
3
CrossRef citations to date
0
Altmetric
Short Communication

Two New β0-Thalassemic Mutations: A Deletion (−CC) at Codon 142 or Overlapping Codons 142-143, and an Insertion (+T) at Codon 45 or Overlapping Codons 44-45/45-46 of the β-Globin Gene

, , &
Pages 159-165 | Received 26 May 2006, Accepted 22 Sep 2006, Published online: 07 Jul 2009

REFERENCES

  • Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19(3)225–233, http://globin.cse.psu.edu).
  • Patrinos GP, Giardine B, Riemer C, Miller W, Chui DHK, Anagnou NP, Wajcman H, Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004; 32(Database issue)D537–D541, http://globin.cse.psu.edu).
  • Thein SL. Dominant β-thalassaemia: molecular basis and pathophysiology. Br J Haematol 1992; 80(3)273–277
  • Thein SL. Is it dominantly inherited β-thalassaemia or just a β-chain variant that is highly unstable?. Br J Haematol 1999; 107(1)12–21
  • Thein SL. Structural variants with a β-thalassemia phenotype. Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management, MH Steinberg, BG Forget, DR Higgs, RL Nagel. Cambridge University Press, Cambridge 2001; 342–355
  • Lacan P, Kister J, Francina A, Souillet G, Galactéros F, Delaunay J, Wajcman H. Hemoglobin Debrousse [β96(FG3)Leu→Pro]: a new unstable hemoglobin with two-fold increased oxygen affinity. Am J Hematol 1996; 51(4)276–281
  • Morlé F, Francina A, Ducrocq R, Wajcman H, Gonnet C, Philippe N, Souillet G, Godet J. A new α chain variant Hb Sallanches [α2 104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient. Br J Haematol 1995; 91(3)608–611
  • Masala B, Manca L. Detection of globin chains by reversed-phase high-performance liquid chromatography. Meth Enzymol 1994; 231: 21–44
  • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000; 95(1)360–362
  • Ivaldi G, David O, Baffico M, Leone D, Baldi M, Parodi MI, Scime-Degani V, Piga A, Scagni P, Rabino-Massa E, Ricco G. Hb Trento: an elongated C-terminal β chain due to a new frameshift mutation [β144 (−A)]. Hemoglobin 2003; 27(1)15–25
  • Delanoe-Garin J, Blouquit Y, Arous N, Kister J, Poyart C, North ML, Bardakdjian J, Lacombe C, Rosa J, Galacteros F. Hemoglobin Saverne: a new variant with elongated β chains: structural and functional properties. Hemoglobin 1988; 12(4)337–352
  • Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Codrington JF, Prchal JT, Hall KM, de Pablos JM, Rodriguez I, Huisman THJ. Hb Birmingham and Hb Galicia; two unstable β chain variants characterized by small deletions and insertions. Blood 1990; 75(9)1883–1887
  • Weinstein BI, Erramouspe B, Albuquerque DM, Oliveira DM, Kimura EM, Costa FF, Sonati MF. Hb Florida: a novel elongated C-terminal β-globin variant causing dominant β-thalassemia phenotype. Am J Hematol 2006; 81(5)358–360
  • Brennan SO, Williamson D, Symmans WA, Carrell RW. Two unstable hemoglobins in one individual: Hb Atlanta (β75 Leu→Pro) and Hb Coventry (β141 Leu deleted). Hemoglobin 1983; 7(4)303–312
  • Petkov GH, Simjanovska L, Tchakarova P, Efremov GD. Hb Stara Zagora: a new hyper-unstable hemoglobin causing severe hemolytic anemia. Hemoglobin 2005; 29(4)249–256
  • Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Quinsat D, Couprie N, Francina A. Identification by mass spectrometry of a hemoglobin variant with an elongated β-globin chain. Clin Chem 2005; 51(1)213–215
  • Baudin-Creuza V, Fablet C, Zal F, Green BN, Promé D, Marden MC, Pagnier J, Wajcman H. Hemoglobin Porto Alegre forms a tetramer of tetramers superstructure. Protein Sci 2002; 11(1)129–136
  • Gilman JG, Huisman THJ. DNA sequence variation associated with elevated Gγ globin production. Blood 1985; 66(4)783–787
  • Craig JE, Sheerin SM, Barnetson R, Thein SL. The molecular basis of HPFH in a British family identified by heteroduplex formation. Br J Haematol 1993; 84(1)106–110
  • Patrinos GP, Loutradi-Anagnostou A, Papadakis MN. A novel DNA polymorphism of the Aγ-globin gene (Aγ −588, A→G) is linked with the XmnI polymorphism (Gγ −158, C→T). Hemoglobin 1995; 19(6)419–423
  • Vrettou C, Kanavakis E, Traeger-Synodinos J, Metaxotou-Mavrommati A, Basiakos I, Maragoudaki E, Stamoulakatou A, Papassotiriou I, Kattamis C. Molecular studies of β-thalassemia heterozygotes with raised Hb F levels. Hemoglobin 2000; 24(3)203–220
  • Ko T-M, Tseng L-H, Hsu P-M, Guu I-J, Lin Y-W, Li S-F, Lee T-Y, Chuang S-M. Molecular characterization of β-thalassemia in Taiwan and the identification of two new mutations. Hemoglobin 1997; 21(2)131–142
  • Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H. β-Thalassemia mutations in Japanese and Koreans. Hemoglobin 1997; 21(2)191–200
  • Oshima K, Harano T, Harano K. Japanese β0-thalassemia: molecular characterization of a novel insertion causing a stop codon. Am J Hematol 1996; 52(1)39–41
  • Antonarakis SE. Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mut 1998; 11(1)1–3

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.