The β-globin promoter -71 C>T mutation is a β+ thalassemic allele

European Journal of Haematology

Volumn 87, Issue 5, 2011, Pages 457-460

  Al Zadjali, Shoaib ^a   Wali, Yasser ^a   Al Lawatiya, Fatma ^b   Gravell, David ^a   Alkindi, Salam ^a   Al Falahi, Kareema ^a   Krishnamoorthy, Rajagopal ^c   Daar, Shahina ^a  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^b MINISTRY OF HEALTH   (Oman)

^c HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

+ Thalassemia; 71 promoter mutation; Hb S; Oman

Indexed keywords

BETA GLOBIN; HEMOGLOBIN A; HEMOGLOBIN A2; HEMOGLOBIN D; HEMOGLOBIN E; HEMOGLOBIN F; HEMOGLOBIN S; NUCLEOTIDE;

ADULT; ALLELE; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; DISEASE SEVERITY; ERYTHROCYTE; FAMILY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; OMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

ALLELES; BASE SEQUENCE; BETA-GLOBINS; BETA-THALASSEMIA; DNA PRIMERS; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC;

EID: 80054022145     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2011.01687.x     Document Type: Article

References (13)

1. Al-Riyami AA, Suleiman AJ, Afifi M, et al. A community-based study of common hereditary blood disorders in Oman. East Mediterr Health J 2001;7:1004-11.
2. Alkindi S, Al Zadjali S, Al Madhani A, et al. Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates. Hemoglobin 2010;34:135-44.
3. Liu YT, Old JM, Miles K, et al. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000;108:295-9.
4. Thein SL. Genetic modifiers of b-thalassaemia. Haematologica 2005;90:649-60.
5. Cadet E, Foulon K, Claisse J-F, Rochette J. First identification of a point mutation at position -83 (G>A) of the b-globin gene promoter. Hemoglobin 2009;33:274-8.
6. Giambona A, Passarello C, Vinciguerra M, et al. Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of β-thalassaemia. Haematologica 2008;93:1380-4.
7. Ristaldi MS, Murru S, Loudianos G, et al. The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population. Br J Haematol 1990;74:480-6.
8. Aguilar-Martinez P, Jourdan E, Brun S, et al. A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening. Am J Hematol 2007;82:1088-90.
9. Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational data base of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002;19:225-33. () Last accessed on March 22, 2011.
10. Gordon CT, Fox VJ, Najdovska S, et al. C/EBPdelta and C/EBPgamma bind the CCAAT-box in the human beta-globin promoter and modulate the activity of the CACC-box binding protein, EKLF. Biochim Biophys Acta 2005;1729:74-80.
11. Akbari MT, Izadi P, Izadyar M, et al. Molecular basis of thalassemia intermedia in Iran. Hemoglobin 2008;32:462-70.
12. Hassan SM, Hamza N, Jaffer Al-Lawatiya F, et al. Extended molecular spectrum of beta- and alpha-thalassemia in Oman. Hemoglobin 2010;34:127-34.
13. Daar S, Hussein HM, Merghoub T, Krishnamoorthy R. Spectrum of beta-thalassemia mutations in Oman. Ann N Y Acad Sci 1998;850:404-6.