A novel mutation of -50 (G → A) in the direct repeat element of the β-globin gene identified in a patient with severe β-thalassemia

Annals of Hematology

Volumn 88, Issue 11, 2009, Pages 1149-1150

  Li, Dong Zhi ^a   Liao, Can ^a   Xie, Xing Mei ^a   Zhou, Jian Ying ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; BETA GLOBIN; GUANOSINE; HEMOGLOBIN BETA CHAIN; MESSENGER RNA;

ADULT; ALLELE; BETA THALASSEMIA; CASE REPORT; CHILD; DIRECT REPEAT ELEMENT; DISEASE SEVERITY; DNA SEQUENCE; DNA STRUCTURE; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; LETTER; MALE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; THALASSEMIA MAJOR; TRANSCRIPTION INITIATION SITE; BLOOD; GENE DELETION; GENETICS; NUCLEOTIDE REPEAT; POINT MUTATION;

ADULT; BETA-GLOBINS; BETA-THALASSEMIA; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; MALE; POINT MUTATION; PROMOTER REGIONS, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 70349432416     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0732-8     Document Type: Letter

References (7)

1. Olivieri NF (1999) The β-thalassemias. N Engl J Med 341:99-109. doi: 10.1056/NEJM199907083410207
2. Clark BE, Thein SL (2004) Molecular diagnosis of heamoglobin disorders. Clin Lab Haematol 26:159-176. doi: 10.1111/j.1365-2257.2004.00607.x
3. Xu XM, Zhou YQ, Luo GX et al (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. doi: 10.1136/jcp. 2003.014456
4. Chen XW, Mo QH, Li Q, Zeng R, Xu XM (2007) A novel mutation of -73 (A → T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. Ann Hematol 86:653-657. doi: 10.1007/s00277-007-0312-8
5. Li Q, Fang X, Olave I et al (2006) Transcriptional potential of the γ-globin gene is dependent on the CACCC box in a developmental stage-specific manner. Nucleic Acids Res 34:3909-3916. doi: 10.1093/nar/ gkl474
6. Stuve LL, Myers RM (1990) A directly repeated sequence in the beta-globin promoter regulates transcription in murine erythroleukemia cells. Mol Cell Biol 10:972-981
7. Irenge LM, Heusterspreute M, Philippe M, Derclaye I, Robert A, Gala JL (2002) Validation of a recombinant DNA construct (micro LCR and full-length beta-globin gene) for quantification of human beta-globin expression: Application to mutations in the promoter, intronic, and 5′- and 3′-untranslated regions of the human beta-globin gene. Clin Chem 48:1787-1791