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Volumn 35, Issue 2, 2011, Pages 125-134

Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia

Author keywords

Thalassemia; Anemia; Heterozygous; Mutation

Indexed keywords

ARTICLE; BETA THALASSEMIA; CHILD; CODON; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL EXAMINATION; NONSENSE MUTATION; PREVENTION STUDY; RNA SPLICING; SAUDI ARABIA; SCHOOL CHILD; SCREENING; SICKLE CELL;

EID: 79952924677     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2011.553567     Document Type: Article
Times cited : (21)

References (28)
  • 2
    • 0003154471 scopus 로고
    • The thalassaemias
    • Stamatoyannopoulos G Majerus PH Varmus H Nienhuis AW eds. Philadelphia PA: W. B. Saunders Company
    • Weatherall DJ. The thalassaemias. In: Stamatoyannopoulos G, Majerus PH, Varmus H, Nienhuis AW, eds. The Molecular Basis of Blood Diseases. Philadelphia, PA: W. B. Saunders Company; 1994: 157-205.
    • (1994) The Molecular Basis of Blood Diseases , pp. 157-205
    • Weatherall, D.J.1
  • 3
    • 20344382303 scopus 로고    scopus 로고
    • Genetic modifiers of β-thalassemia
    • Thein SL. Genetic modifiers of β-thalassemia. Haematologica. 2005;90(5):649-660.
    • (2005) Haematologica , vol.90 , Issue.5 , pp. 649-660
    • Thein, S.L.1
  • 6
    • 0036190154 scopus 로고    scopus 로고
    • HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
    • Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, Anagnou N, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-331 (http//globin.cse.psu.edu).
    • (2002) Hum Mutat , vol.19 , Issue.3 , pp. 225-331
    • Hardison, R.C.1    Dhk, C.2    Giardine, B.3    Riemer, C.4    Patrinos, G.P.5    Anagnou, N.6
  • 8
    • 0024504090 scopus 로고
    • β-Thalassaemia mutations in Mediterranean populations
    • Cao A, Gossens M, Pirastu M. β-Thalassaemia mutations in Mediterranean populations. Br J Haematol. 1989; 71(3):309-312.
    • (1989) Br J Haematol , vol.71 , Issue.3 , pp. 309-312
    • Cao, A.1    Gossens, M.2    Pirastu, M.3
  • 9
    • 0242632723 scopus 로고    scopus 로고
    • The spectrum of β-thalassemia mutations in the Arab populations
    • DOI 10.1155/S1110724301000298, PII S1110724301000298
    • Zahed L. The spectrum of β-thalassaemia mutations in the Arab populations. J Biomed Biotechnol. 2001;1(3):129-132. (Pubitemid 46842819)
    • (2001) Journal of Biomedicine and Biotechnology , vol.2001 , Issue.3 , pp. 129-132
    • Zahed, L.1
  • 10
    • 0029117207 scopus 로고
    • Molecular defects in β-thalassaemias in the population of Saudi Arabia
    • El-Hazmi MA, Al-Swailem AR, Warsy AS. Molecular defects in β-thalassaemias in the population of Saudi Arabia. Hum Hered. 1995;45(5):278-285.
    • (1995) Hum Hered , vol.45 , Issue.5 , pp. 278-285
    • El-Hazmi, M.A.1    Al-Swailem, A.R.2    Warsy, A.S.3
  • 11
    • 0029044446 scopus 로고
    • Spectrum of β-thalassaemia mutations in the population of Saudi Arabia
    • Hasounah FH, Sejeny SA, Omer JA, Old JM, Oliver RW. Spectrum of β-thalassaemia mutations in the population of Saudi Arabia. Hum Hered. 1995;45(4):231-234.
    • (1995) Hum Hered , vol.45 , Issue.4 , pp. 231-234
    • Hasounah, F.H.1    Sejeny, S.A.2    Omer, J.A.3    Old, J.M.4    Oliver, R.W.5
  • 14
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215-1216.
    • (1988) Nucleic Acids Res , vol.16 , Issue.3 , pp. 1215-1216
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 16
    • 0017880649 scopus 로고
    • Natural history of sickle cell anemia in Saudi Arabs. A study of 270 subjects
    • Perrine RP, Pembrey ME, John P, Perrine S, Shoup F. Natural history of sickle cell anemia in Saudi Arabs. A study of 270 subjects. Ann Intern Med. 1978;88(1):1-6. (Pubitemid 8265449)
    • (1978) Annals of Internal Medicine , vol.88 , Issue.1 , pp. 1-6
    • Perrine, R.P.1    Pembrey, M.E.2    John, P.3
  • 17
    • 70449723370 scopus 로고    scopus 로고
    • Incidence of haemoglobinopathies in various populations - The impact of immigration
    • Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, et al. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009;42(18):1745-1756.
    • (2009) Clin Biochem , vol.42 , Issue.18 , pp. 1745-1756
    • Henderson, S.1    Timbs, A.2    McCarthy, J.3    Gallienne, A.4    Van Mourik, M.5    Masters, G.6
  • 18
    • 0031873069 scopus 로고
    • Molecular basis of β-thalassemia in Bahrain: An epicenter for a Middle East specific mutation
    • Jassim N, Merghoub T, Pascaud O, al Mukharraq H, Ducrocq R, Labie D, et al. Molecular basis of β-thalassemia in Bahrain: an epicenter for a Middle East specific mutation. Ann NY Acad Sci. 1988;850:407-409.
    • (1988) Ann NY Acad Sci , vol.850 , pp. 407-409
    • Jassim, N.1    Merghoub, T.2    Pascaud, O.3    Al Mukharraq, H.4    Ducrocq, R.5    Labie, D.6
  • 19
    • 0028641678 scopus 로고
    • Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βs haplotypes among Kuwaiti Arabs
    • Adekile AD, Gu L-H, Baysal E, Haider MZ, al-Fuzae L, Aboobacker KC, et al. Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βS haplotypes among Kuwaiti Arabs. Acta Haematol. 1994;92(4):176-181.
    • (1994) Acta Haematol , vol.92 , Issue.4 , pp. 176-181
    • Adekile, A.D.1    Gu, L.-H.2    Baysal, E.3    Haider, M.Z.4    Al-Fuzae, L.5    Aboobacker, K.C.6
  • 22
    • 0347125141 scopus 로고    scopus 로고
    • Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    • Database issue
    • Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32 (Database issue):D537-D541 (http//globin.cse.psu.edu).
    • (2004) Nucleic Acids Res , vol.32
    • Patrinos, G.P.1    Giardine, B.2    Riemer, C.3    Miller, W.4    Chui, D.H.5    Anagnou, N.P.6
  • 23
    • 0033547527 scopus 로고    scopus 로고
    • The molecular changes in thalassemias in Spain. A review of existing studies
    • Moreno I, Bolufer GP, Perez SM. The molecular changes in thalassemias in Spain. A review of existing studies. Medicina Clinica. 1999;113(20):789-794.
    • (1999) Medicina Clinica , vol.113 , Issue.20 , pp. 789-794
    • Moreno, I.1    Bolufer, G.P.2    Perez, S.M.3
  • 24
    • 57349129112 scopus 로고    scopus 로고
    • Controlling α-globin: A review of α-globin expression and its impact on β-thalassemia
    • Voon HPJ, Vadolas J. Controlling α-globin: a review of α-globin expression and its impact on β-thalassemia. Haematologica. 2008;93(12):1868-1876.
    • (2008) Haematologica , vol.93 , Issue.12 , pp. 1868-1876
    • Voon, H.P.J.1    Vadolas, J.2
  • 25
    • 0032411621 scopus 로고    scopus 로고
    • Bone disease in β-thalassaemia major
    • Wonke B. Bone disease in β-thalassaemia major. Br J Haematol. 1998;103(4):897-901.
    • (1998) Br J Haematol , vol.103 , Issue.4 , pp. 897-901
    • Wonke, B.1
  • 26
    • 0036092892 scopus 로고    scopus 로고
    • The hypercoagulable state in thalassemia
    • Eldor A, Rachmilewitz EA. The hypercoagulable state in thalassemia. Blood. 2002;99(1):36-43.
    • (2002) Blood , vol.99 , Issue.1 , pp. 36-43
    • Eldor, A.1    Rachmilewitz, E.A.2
  • 28
    • 33646391919 scopus 로고    scopus 로고
    • Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: New data, new questions
    • Neufeld EJ. Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions. Blood. 2006;107(9):3436-3441.
    • (2006) Blood , vol.107 , Issue.9 , pp. 3436-3441
    • Neufeld, E.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.