Identification and molecular characterization of four new large deletions in the β-globin gene cluster

Blood Cells, Molecules, and Diseases

Volumn 43, Issue 1, 2009, Pages 53-57

  Joly, Philippe ^a,b   Lacan, Philippe ^a   Garcia, Caroline ^a   Couprie, Nicole ^c   Francina, Alain ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b UNIVERSITÉ LYON 1   (France)

^c Laboratoire Biomnis   (France)

Author keywords

globin gene cluster; ( )0 thalassemia, Semi quantitative PCR; HPFH; Large deletion; Prenatal diagnosis

Indexed keywords

BETA GLOBIN; DELTA GLOBIN; HEMOGLOBIN A; HEMOGLOBIN A2; HEMOGLOBIN C; HEMOGLOBIN F;

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; FEMALE; GENE CLUSTER; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; HEMOGLOBIN ANALYSIS; HEMOGLOBINOPATHY; HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN; HUMAN; MALE; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; THALASSEMIA;

ADULT; BASE SEQUENCE; BETA-GLOBINS; FEMALE; FETAL HEMOGLOBIN; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; PHENOTYPE; THALASSEMIA; YOUNG ADULT;

EID: 68649103720     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.01.017     Document Type: Article

References (39)

1. Wood W.G. Hereditary persistence of fetal hemoglobin and δβ-thalassemia. In: Steinberg M.H., Forget B.G., Higgs D.R., and Nagel R.L. (Eds). Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management (2001), Cambridge University Press, New York 356-388
2. Lacan P., Kister J., Francina A., et al. Hemoglobin Debrousse [β96(FG3)Leu → Pro]: a new unstable hemoglobin with twofold increased oxygen affinity. Am. J. Hematol. 51 (1996) 276-281
3. Sutton M., Bouhassira E.E., and Nagel R.L. Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am. J. Hematol. 32 (1989) 66-69
4. Zanella-Cleon I., Becchi M., Lacan P., et al. Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography. Clin. Chem. 54 (2008) 1053-1059
5. Chong S.S., Boehm C.D., Higgs D.R., and Cutting G.R. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 95 (2000) 360-362
6. Armour J.A.L., Barton D.E., Cockburn D.J., et al. The detection of large deletions or duplications in genomic DNA. Hum. Mutat. 20 (2002) 325-337
7. Bhardwaj U., and McCabe E.R. Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin. Mol. Diagn. 9 (2005) 151-156
8. Craig J.E., Barnetson R.A., Prior J., et al. Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 83 (1994) 1673-1682
9. National Center for Biotechnology Information (NCBI) database. Available: http://blast.ncbi.nlm.nih.gov/Blast.cgi.
10. Aulehla-Scholz C., Spiegelberg R., and Horst J. A β-thalassemia mutant caused by a 300-bp deletion in the human beta globin gene. Hum. Genet. 81 (1989) 298-299
11. 2-β-thalassemia due to a 468 bp deletion (-475 to -8) in the β-globin gene promoter of the intact β-globin structural gene. Hemoglobin 28 (2004) 69-72
12. 0-thalassemia due to a 532-basepair deletion of the 5′ β-globin gene region. Blood 77 (1991) 1100-1103
13. 0-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype. Am. J. Hematol. 38 (1991) 108-112
14. Huang C.H., Chang Y.Y., Chen C.H., and Ko T.M. Molecular characterization of a β-globin gene deletion of 1357 bp in a Taiwanese β-thalassemia carrier. Hemoglobin 32 (2008) 498-504
15. 0-thalassemia due to a 1605 bp deletion of the 5′ β-globin gene region. Br. J. Haematol. 85 (1993) 143-147
16. Lynch J.R., Brown J.M., Best S., et al. Characterization of the breakpoint of a 3.5-kb deletion of the β-globin gene. Genomics 10 (1991) 509-511
17. Popovich B.W., Rosenblatt D.S., Kendall A.G., and 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. 39 (1986) 797-810
18. Oner C., Oner R., Gurgey A., and Altay C. A new Turkish type of β-thalassemia major with homozygosity for two non-consecutive 7.6 kb deletions of the psi beta and beta genes and an intact delta gene. Br. J. Haematol. 89 (1995) 306-312
19. 2. Br. J. Haematol. 82 (1992) 735-744
20. 0-thalassemia due to a 12 kb deletion commencing 5′ of the β-globin gene. Br. J. Haematol. 82 (1992) 107-113
21. 0-thalassemia. Br. J. Haematol. 67 (1987) 369-372
22. 0-thalassemia or hereditary persistence of fetal hemoglobin?. Blood 83 (1994) 822-827
23. 0-thalassemia resulting from a large deletion of the 5′ beta globin gene. J. Med. Genet. 30 (1993) 240-244
24. 0-thalassemia and HPFH. Abstracts of the Sixth International Conference on Thalassaemia and the Haemoglobinopathies. Abstract 152, Malta, 1997.
25. Stamatoyannopoulos G., and Grosveld F. Hemoglobin switching. In: Stamatoyannopoulos G., Majerus P.W., Perlmutter R.M., and Varmus H. (Eds). The Molecular Basis of Blood Diseases. 3rd Edition (2001), W.B. Saunders Co., Philadelphia 135-182
26. Chakravarti A., Buetow K.H., Antonarakis S.E., et al. Nonuniform recombination within the human beta-globin gene cluster. Am. J. Hum. Genet. 36 (1984) 1239-1258
27. Smith R.A., Ho P.J., Clegg J.B., et al. Recombination breakpoints in the human beta-globin gene cluster. Blood 92 (1998) 4415-4421
28. Ferrone F., and Nagel R.L. Polymer structure and polymerization of deoxyhemoglobin S. In: Steinberg M.H., Forget B.G., Higgs D.R., and Nagel R.L. (Eds). Disorders of Hemoglobin: Genetics, Pathophysiology, Clinical Management (2001), Cambridge University Press, Cambridge 577-610
29. Harteveld C.L., Voskamp A., Phylipsen M., et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J. Med. Genet. 42 (2005) 922-931
30. Katsantoni E.Z., Langeveld A., Wai A.W., et al. Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. Blood 102 (2003) 3412-3419
31. Feingold E.A., and Forget B.G. The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster. Blood 74 (1989) 2178-2186
32. Arcasoy M.O., Romana M., Fabry M.E., et al. High levels of human gamma-globin gene expression in adult mice carrying a transgene of deletion-type hereditary persistence of fetal hemoglobin. Mol. Cell. Biol. 17 (1997) 2076-2089
33. Bank A., Mears J.G., and Ramirez F. Disorders of human hemoglobin. Science 207 (1980) 486-493
34. Mears J.G., Ramirez F., Leibowitz D., et al. Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc. Natl. Acad. Sci. U. S. A. 75 (1978) 1222-1226
35. Calzolari R., McMorrow T., Yannoutsos N., et al. Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. EMBO J. 18 (1999) 949-958
36. Gribnau J., Diderich K., Pruzina S., et al. Intergenic transcription and developmental remodeling of chromatin subdomains in the human beta-globin locus. Mol. Cell 5 (2000) 377-386
37. Gaensler K.M., Zhang Z., Lin C., et al. Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus. Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 3374-3379
38. Chakalova L., Osborne C.S., Dai Y.F., et al. The Corfu deltabeta thalassemia deletion disrupts gamma-globin gene silencing and reveals post-transcriptional regulation of Hb F expression. Blood 105 (2005) 2154-2160
39. Bank A. Regulation of human fetal hemoglobin: new players, new complexities. Blood 107 (2006) 435-443