Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 28, 2004 - Issue 1
49
Views
5
CrossRef citations to date
0
Altmetric
Short Communication

A New High A2‐β‐Thalassemia Due to a 468 bp Deletion (− 475 to − 8) in the β‐Globin Gene Promoter of the Intact β‐Globin Structural Gene

, , , , &
Pages 69-72 | Received 29 Aug 2003, Accepted 05 Sep 2003, Published online: 24 Aug 2009

References

  • Cai S P, Wall J, Kan Y W, Chehab F F. Reverse dot blot probes for the screening of β‐thalassemia mutations in Asians and American Blacks. Hum Mutat 1994; 3(1)59–63
  • Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M A. Comprehensive scanning method for rapid detection of β‐globin gene mutations and polymorphisms. Hum Mutat 1992; 1(3)229–239
  • Dimovski A J, Baysal E, Efremov D G, Prior J F, Raven J L, Huisman T HJ. A large β‐thalassemia deletion in a family of Indonesian–Malay descent. Hemoglobin 1996; 20(4)377–392
  • Gilman J G. The 12.6 kilobase DNA deletion in Dutch β0‐thalassaemia. Br J Haematol 1987; 67(3)369–372
  • Motum P I, Lindeman R, Hamilton T J, Trent R J. Australian β0‐thalassemia: a high Haemoglobin A2 β0‐thalassaemia due to a 123 kb deletion commencing 5′ to the β‐globin gene. Br J Haematol 1992; 82(1)107–113
  • Craig J E, Kelly S J, Barnetson R, Thein S L. Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high HbA2. Br J Haematol 1992; 82(4)735–744
  • Oner C, Oner R, Gurgey A, Altay C. A new Turkish type of β‐thalassaemia major with homozygosity for two non‐consecutive 7.6 kb deletions of the ψβ and β genes and an intact δ gene. Br J Haematol 1995; 89(2)306–312
  • Popovich B W, Rosenblatt D S, Kendall A G, Nishioka Y. Molecular characterization of an atypical β‐thalassemia caused by a large deletion in the 5′ β‐globin gene region. Am J Hum Genet 1986; 39(6)797–810
  • Lynch J R, Brown J M, Best S, Jennings M W, Weatherall D J. Characterization of the breakpoint of a 3.5‐kb deletion of the β‐globin gene. Genomics 1991; 10(2)509–511
  • Dimovski A J, Efremov D G, Jankovic L, Plaseska D, Juricic D, Efremov G D. A β0‐thalassaemia due to a 1605 bp deletion of the 5′‐β‐globin gene region. Br J Haematol 1993; 85(1)143–147
  • Thein S L, Hesketh C, Brown J M, Anstey A V, Weatherall D J. Molecular characterization of a high A2 β‐thalassemia by direct sequencing of single strand enriched amplified genomic DNA. Blood 1989; 7(4)924–930
  • Waye J S, Cai S P, Eng B, Clark C, Adams J G, Chui D HK, Steinberg M H. High Hemoglobin A2 β0‐thalassemia due to a 532‐basepair deletion of the 5′ β‐globin gene region. Blood 1991; 77(5)1100–1103
  • Aulehla‐Scholz C, Spiegelberg R, Horst J. A β‐thalassemia mutant caused by a 300‐bp deletion in the human β‐globin gene. Hum Genet 1989; 81(3)298–299
  • Orkin S H, Antonarakis S E, Kazazian H H, Jr. Base substitution at position − 88 in a β‐thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem 1984; 259(14)8679–8681
  • Lin L I, Lin K S, Lin K H, Cheng T Y. A novel − 32 (C → A) mutant identified in amplified genomic DNA of a Chinese β‐thalassemic patient. Am J Hum Genet 1992; 50(1)237–238
  • Huisman T HJ. Levels of Hb A2 in heterozygotes and homozygotes for β‐thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the β‐globin gene promoter. Acta Haematol 1997; 98(4)187–194
  • Hanscombe O, Whyatt D, Fraser P, Yannoutsos N, Greaves D, Dillon N, Grosveld F. Importance of globin gene order for correct developmental expression. Genes Dev 1991; 5(8)1387–1394
  • Hattori Y, Yamashiro Y, Ohba Y, Miyaji T, Morishita M, Yamamoto Ku, Yamamoto Ki, Narai S, Kimura A. A new β‐thalassemia (initiation codon ATG → GTG) found in the Japanese population. Hemoglobin 1991; 15(4)317–325
  • Keser I, Kayisli O G, Yesilipek A, Ozes O N, Luleci G. Hb Antalya [codons 3–5 (Leu–Thr–Pro → Ser–Asp–Ser)]: a new unstable variant leading to chronic microcytic anemia with high Hb A2. Hemoglobin 2001; 25(4)369–373
  • Oshima K, Harano T, Harano K. Japanese β‐thalassemia: molecular characterization of a novel insertion causing a stop codon. Am J Hematol 1996; 52(1)39–41
  • Atweh G F, Brickner H E, Zhu D E, Kazazian H H, Jr, Forget B G. New amber mutation in a β‐thalassemic gene with nonmeasurable levels of mutant messeger RNA in vivo. J Clin Invest 1988; 82(2)557–561
  • Hattori Y, Yamamoto Ku, Yamashiro Y, Ohba Y, Miyamura S, Yamamoto Ki, Matsuno M, Morishita T, Miyaji T, Era T. Three β‐thalassemia mutations in the Japanese: IVS‐II‐1 (G → A), IVS‐II‐848 (C → G), and codon 90 (GAG → TAG). Hemoglobin 1992; 16(1&2)93–97

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.