A novel mutation of -73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia

Annals of Hematology

Volumn 86, Issue 9, 2007, Pages 653-657

  Chen, Xiao Wei ^a   Mo, Qiu Hua ^a   Li, Qiang ^a   Zeng, Rong ^a   Xu, Xiang Min ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

Author keywords

thalassemia; Thalassemia intermedia; Promoter mutation; Real timere verse transcript PCR (RT PCR); Silent

Indexed keywords

BETA GLOBIN; HEMOGLOBIN; MESSENGER RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CHILD; CHINA; CLINICAL ARTICLE; CODON; DNA SEQUENCE; FEMALE; GENE MUTATION; HAPLOTYPE; HEMATOLOGY; HETEROZYGOTE; HUMAN; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROGENY; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

BETA-THALASSEMIA; CHILD; CHINA; FAMILY HEALTH; GLOBINS; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROMOTER REGIONS (GENETICS); RNA, MESSENGER;

EID: 34547572421     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-007-0312-8     Document Type: Article

References (21)

1. Ko TM, Xu X (1998) Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese. J Formos Med Assoc 97:5-15
2. Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M, Chen PY, Lu JP, Jia SQ, Xiao GF, Shen X, Li J, Chen HP, Xia YY, Wen YX, Mo QH, Li WD, Li YY, Zhuo LW, Wang ZQ, Chen YJ, Qin CH, Zhong M (2004) The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: Implications for the future health burden and population screening. J Clin Pathol 57:517-522
3. Weatherall DJ, Clegg JB (2001) The Thalassaemia syndromes, 4th edn. Blackwell, Oxford, UK
4. Cai SP, Wall J, Kan YW, Chehab FF (1994) Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks. Human Mutat 3:59-63
5. Mo QH, Li XR, Li CF, He YL, Xu XM (2005) A novel frameshift mutation (+ G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values. J Clin Pathol 58:923-926
6. Lee YJ, Park SS, Kim JY, Cho HI (2002) RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans. J Korean Med Sci 17:475-478
7. Xu X, Liao C, Liu Z, Li J, Peng Z, Qiu LL, Zhang J (1995) A novel amber mutation in a beta zero-thalassaemia gene (beta 37TGG→TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA. Br J Haematol 90:960-962
8. Jia S, Lao X, Li W, Ma J, Mo Q, Xu X (2003) A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family. Haematologica 88:1191-1193
9. Camaschella C, Cappellini MD (1995) Thalassemia intermedia. Haematologica 80:58-68
10. Bianco I, Cappabianca MP, Foglietta E, Lerone M, Deidda G, Morlupi L, Grisanti P, Ponzini D, Rinaldi S, Graziani B (1997) Silent thalassemias: genotypes and phenotypes. Haematologica 82:269-280
11. Galanello R, Cao A (1998) Relationship between genotype and phenotype. Thalassemia intermedia. Ann N Y Acad Sci 850:325-333
12. Rosatelli MC, Faa V, Meloni A, Fiorenza F, Galanello R, Gasperini D, Amendola G, Cao A (1995) A promoter mutation, C→T at position -92, leading to silent beta-thalassaemia. Br J Haematol 90:483-485
13. Maragoudaki E, Kanavakis E, Traeger-Synodinos J, Vrettou C, Tzetis M, Metaxotou-Mavrommati A, Kattamis C (1999) Molecular, haematological and clinical studies of the -101 C→T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes. Br J Haematol 107:699-706
14. Lin LI, Lin KS, Lin KH, Cheng TY (1992) A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient. Am J Hum Genet 50:237-238
15. Agarwal S, Arya V, Stolle CA, Pradhan M (2006) A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region. Eur J Haematol 77:530-532
16. Moi P, Faa V, Marini MG, Asunis I, Ibba G, Cao A, Rosatelli MC (2004) A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. Br J Haematol 126:881-884
17. Basran RK, Reiss UM, Luo HY, Ware RE, Chui DH (2007) Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion. Pediatr Blood Cancer, DOI 10.1002/pbc.20916
18. Li Q, Fang X, Olave I, Han H, Yu M, Xiang P, Stamatoyannopoulos G (2006) Transcriptional potential of the gamma-globin gene is dependent on the CACCC box in a developmental stage-specific manner. Nucleic Acids Res 34:3909-3916
19. Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ (1982) Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296:627-631
20. Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH Jr (1984) Beta-thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA 81:2821-2825
21. Chan V, Chan TK, Cheng MY, Leung NK, Kan YW, Todd D (1986) Characteristics and distribution of beta thalassemia haplotypes in South China. Hum Genet 73:23-26