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Volumn 39, Issue 6, 2015, Pages 389-392

Mutation spectrum of β-Thalassemia and other hemoglobinopathies in Chittagong, Southeast Bangladesh

Author keywords

Amplification refractory mutation system polymerase chain reaction (ARMS PCR); Hb A2 E; Hb E thalassemia (Hb E thal); mean corpuscular hemoglobin (MCH); mean corpuscular volume (MCV); globin mutations; thalassemia ( thal)

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN E;

EID: 84945472105     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2015.1078810     Document Type: Article
Times cited : (14)

References (21)
  • 2
    • 84949032239 scopus 로고    scopus 로고
    • Avoidance and population control
    • In: Weatherall DJ, Clegg JB, Eds. 4th ed. Oxford, UK: Blackwell Science
    • Old JM, Olivieri NF, Thein SL. Avoidance and population control. In: Weatherall DJ, Clegg JB., Eds. The Thalassaemia Sydromes, 4th ed. Oxford, UK: Blackwell Science. 2001: 597-629
    • (2001) The Thalassaemia Sydromes , pp. 597-629
    • Old, J.M.1    Olivieri, N.F.2    Thein, S.L.3
  • 3
    • 0021725063 scopus 로고
    • The mutation and polymorphism of the human β-globin gene and its surrounding DNA
    • Orkin SH, Kazazian HH Jr. The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Annu Rev Genet. 1984; 18 (1): 131-171
    • (1984) Annu Rev Genet , vol.18 , Issue.1 , pp. 131-171
    • Orkin, S.H.1    Kazazian, H.H.2
  • 4
    • 0034324594 scopus 로고    scopus 로고
    • Introduction to the problem of Hemoglobin e β thalassemia
    • Weatherall DJ. Introduction to the problem of Hemoglobin E β thalassemia. J Pediatr Hematol Oncol. 2000; 22 (6): 552-557
    • (2000) J Pediatr Hematol Oncol , vol.22 , Issue.6 , pp. 552-557
    • Weatherall, D.J.1
  • 5
    • 0034603546 scopus 로고    scopus 로고
    • Thalassaemia in Sri Lanka: Implications for the future health burden of asian populations Sri Lanka thalassaemia study group
    • de Silva S, Fisher CA, Premawardhena A, et al. Thalassaemia in Sri Lanka: Implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group. Lancet. 2000; 355 (9206): 786-791
    • (2000) Lancet , vol.355 , Issue.9206 , pp. 786-791
    • De Silva, S.1    Fisher, C.A.2    Premawardhena, A.3
  • 6
    • 0034889014 scopus 로고    scopus 로고
    • Inherited haemoglobin disorders: An increasing global health problem
    • Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: An increasing global health problem. Bull World Health Org. 2001; 79 (8): 704-712
    • (2001) Bull World Health Org , vol.79 , Issue.8 , pp. 704-712
    • Weatherall, D.J.1    Clegg, J.B.2
  • 7
    • 49949083220 scopus 로고    scopus 로고
    • World Health Organization Resolutions, May EB118.R1 and WHA59.20
    • Thalassaemia and other haemoglobinopathies. World Health Organization Resolutions, May 2006, EB118.R1 and WHA59.20. (http://www.who.int/gb/ebwha/pdf-files/EBSS-EB118-2005-REC1/english/Res/res-eb118-2006-rec1-en.pdf
    • (2006) Thalassaemia and Other Haemoglobinopathies
  • 8
    • 77957031804 scopus 로고    scopus 로고
    • Report of a Joint WHO-TIF (Thalassaemia International Federation) Meeting held at Nicosia, Cyprus, 16-18 November WHO Library Cataloguing-in-Publication Data. Geneva, Switzerland: printed by the WHO Production Services. (NLM classification: WH 190
    • Management of Haemoglobin Disorders. Report of a Joint WHO-TIF (Thalassaemia International Federation) Meeting held at Nicosia, Cyprus, 16-18 November 2007. WHO Library Cataloguing-in-Publication Data. Geneva, Switzerland: printed by the WHO Production Services. (NLM classification: WH 190
    • (2007) Management of Haemoglobin Disorders
  • 9
    • 0004066992 scopus 로고    scopus 로고
    • Population Reference Bureau, Washington, DC
    • World population data sheet. Population Reference Bureau, Washington, DC, 2009. (http://www.prb.org/pdf09/09wpds-eng.pdf
    • (2009) World Population Data Sheet
  • 10
    • 0004066992 scopus 로고    scopus 로고
    • Population Reference Bureau, Washington, DC
    • World population data sheet. Population Reference Bureau, Washington, DC, 2012. (http://www.prb.org/pdf12/2012-population-data-sheet-eng.pdf
    • (2012) World Population Data Sheet
  • 11
    • 0033953189 scopus 로고    scopus 로고
    • Clinical and hematologic aspects of Hemoglobin e β-thalassemia
    • Fucharoen S, Winichagoon P. Clinical and hematologic aspects of Hemoglobin E β-thalassemia. Curr Opin Hematol. 2000; 7 (2): 106-112
    • (2000) Curr Opin Hematol , vol.7 , Issue.2 , pp. 106-112
    • Fucharoen, S.1    Winichagoon, P.2
  • 12
    • 33749022325 scopus 로고    scopus 로고
    • March of dimes global report on birth defects March of dimes birth defects foundation
    • Christianson A, Howson CP, Modell B. March of Dimes global report on birth defects. March of Dimes Birth Defects Foundation, White Plains. 2006: 24-27. (http://www.marchofdimes.org/materials/global-report-on-birth-defects-the-hidden-toll-of-dying-and-disabled-children-executive-summary.pdf
    • (2006) White Plains , pp. 24-27
    • Christianson, A.1    Howson, C.P.2    Modell, B.3
  • 13
    • 0025887115 scopus 로고
    • The spectrum of β-thalassaemia mutations on the indian subcontinent: The basis for prenatal diagnosis
    • Varawalla NY, Old JM, Sarkar R, et al. The spectrum of β-thalassaemia mutations on the Indian subcontinent: The basis for prenatal diagnosis. Br J Haematol. 1991; 78 (2): 242-247
    • (1991) Br J Haematol , vol.78 , Issue.2 , pp. 242-247
    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3
  • 14
    • 0020376275 scopus 로고
    • Abnormal RNA processing due to the exon mutation of the β-globin gene
    • Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Abnormal RNA processing due to the exon mutation of the β-globin gene. Nature. 1982; 300 (5894): 768-769
    • (1982) Nature , vol.300 , Issue.5894 , pp. 768-769
    • Orkin, S.H.1    Kazazian, H.H.2    Antonarakis, S.E.3
  • 15
    • 0021354705 scopus 로고
    • Hemoglobin e in europeans: Further evidence for multiple origins of the β globin gene
    • Kazazian HH Jr, Waber PG, Boehm CD, et al. Hemoglobin E in Europeans: Further evidence for multiple origins of the β globin gene. Am J Hum Genet. 1984; 36 (1): 212-217
    • (1984) Am J Hum Genet , vol.36 , Issue.1 , pp. 212-217
    • Kazazian, H.H.1    Waber, P.G.2    Boehm, C.D.3
  • 16
    • 0020620321 scopus 로고
    • Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes
    • Treisman T, Orkin SH, Maniatis T. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature. 1983; 302 (5909): 591-596
    • (1983) Nature , vol.302 , Issue.5909 , pp. 591-596
    • Treisman, T.1    Orkin, S.H.2    Maniatis, T.3
  • 17
    • 0021399557 scopus 로고
    • Molecular characterization of seven β-thalassemia mutations in Asian Indians
    • Kazazian HH Jr, Orkin SH, Antonarakis SE, et al. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984; 3 (3): 593-596
    • (1984) EMBO J. , vol.3 , Issue.3 , pp. 593-596
    • Kazazian, H.H.1    Orkin, S.H.2    Antonarakis, S.E.3
  • 18
    • 0012401017 scopus 로고
    • Β-thalassemia in Chinese: Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects
    • Cheng T, Orkin SH, Antonarakis SE, et al. β-Thalassemia in Chinese: Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA. 1984; 81 (9): 2821-2825
    • (1984) Proc Natl Acad Sci USA , vol.81 , Issue.9 , pp. 2821-2825
    • Cheng, T.1    Orkin, S.H.2    Antonarakis, S.E.3
  • 19
    • 0020549098 scopus 로고
    • Structural analysis of a β-thalassemia gene found in Taiwan
    • Kimura A, Matsunaga E, Takihara Y, et al. Structural analysis of a β-thalassemia gene found in Taiwan. J Biol Chem. 1983; 258 (5): 2748-2749
    • (1983) J Biol Chem , vol.258 , Issue.5 , pp. 2748-2749
    • Kimura, A.1    Matsunaga, E.2    Takihara, Y.3
  • 20
    • 0023849720 scopus 로고
    • The peculiar spectrum of β-thalassemia genes in Tunisia
    • Chibani J, Vidaud M, Duquesnoy P, et al. The peculiar spectrum of β-thalassemia genes in Tunisia. Hum Genet. 1988; 78 (2): 190-192
    • (1988) Hum Genet , vol.78 , Issue.2 , pp. 190-192
    • Chibani, J.1    Vidaud, M.2    Duquesnoy, P.3
  • 21
    • 0020488056 scopus 로고
    • Duplication followed by deletion accounts for the structure of an Indian deletion β-thalassemia gene
    • Spritz RA, Orkin SH. Duplication followed by deletion accounts for the structure of an Indian deletion β-thalassemia gene. Nucleic Acids Res. 1982; 10 (24): 8025-8029
    • (1982) Nucleic Acids Res , vol.10 , Issue.24 , pp. 8025-8029
    • Spritz, R.A.1    Orkin, S.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.