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Volumn 33, Issue 2, 2009, Pages 124-131

Frequency of α-globin gene triplications and their interaction with β-thalassemia mutations

Author keywords

triplications; thalassemia; Frequency; Hb a2,

Indexed keywords

ALPHA GLOBIN;

EID: 67449098138     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260902827684     Document Type: Article
Times cited : (46)

References (23)
  • 2
    • 67649554158 scopus 로고    scopus 로고
    • Evaluating the five most common dedicated automatic devices for hemoglobinopathy diagnostics in multi ethnic populations
    • in press
    • van Delft P, Lenters E, Bakker-Verweij M, de Korte M, Harteveld CL, Giordano PC. Evaluating the five most common dedicated automatic devices for hemoglobinopathy diagnostics in multi ethnic populations. InlJLabHemalol. 2008; (in press).
    • (2008) InlJLabHemalol
    • van Delft, P.1    Lenters, E.2    Bakker-Verweij, M.3    de Korte, M.4    Harteveld, C.L.5    Giordano, P.C.6
  • 3
    • 0033983971 scopus 로고    scopus 로고
    • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of (-thalassemia. Shod. 2000;95(1).'360-362.
    • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of (-thalassemia. Shod. 2000;95(1).'360-362.
  • 4
    • 0034091983 scopus 로고    scopus 로고
    • Rapid detection of re-thalassaemia deletions and -globin gene triplication by multiplex polymerase chain reactions
    • Liu Yr, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of re-thalassaemia deletions and «-globin gene triplication by multiplex polymerase chain reactions. Br J Ilaemalol. 2000;108(2):295-299.
    • (2000) Br J Ilaemalol , vol.108 , Issue.2 , pp. 295-299
    • Liu, Y.1    Old, J.M.2    Miles, K.3    Fisher, C.A.4    Weatherall, D.J.5    Clegg, J.B.6
  • 5
    • 34248146513 scopus 로고    scopus 로고
    • The rare Hb Shovva-Yakushiji [β110(G12)Leu→Pro, C7G→COG] in combination with an a gene triplication found in a Dutch patient during her first pregnancy examination
    • Giordano PC, Addo-Daaku A, Sander MJ, van Rooijen-Nijdam I, van Delft P, Harteveld CL, et al. The rare Hb Shovva-Yakushiji [β110(G12)Leu→Pro, C7G→COG] in combination with an a gene triplication found in a Dutch patient during her first pregnancy examination. Hemoglobin. 2007;31 (2):167-171.
    • (2007) Hemoglobin , vol.31 , Issue.2 , pp. 167-171
    • Giordano, P.C.1    Addo-Daaku, A.2    Sander, M.J.3    van Rooijen-Nijdam, I.4    van Delft, P.5    Harteveld, C.L.6
  • 6
    • 33746267911 scopus 로고    scopus 로고
    • Hb Bleuland [α:108(G15)Thr→Asn, AOC→A/IC (α2)]: A new abnormal hemoglobin associated with a mild α-thalassemia phenotype
    • Harteveld CL, Versteegh EGA, Kok PJMJ, van Rooijen-Nijdam IH, van Delft P, Giordano PC. Hb Bleuland [α:108(G15)Thr→Asn, AOC→A/IC (α2)]: A new abnormal hemoglobin associated with a mild α-thalassemia phenotype. Hemoglobin. 2006;30(3):349-354.
    • (2006) Hemoglobin , vol.30 , Issue.3 , pp. 349-354
    • Harteveld, C.L.1    Versteegh, E.G.A.2    Kok, P.J.M.J.3    van Rooijen-Nijdam, I.H.4    van Delft, P.5    Giordano, P.C.6
  • 7
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16pl3.3 and llpl5.4 causing α and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, et al. Nine unknown rearrangements in 16pl3.3 and llpl5.4 causing α and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genel. 2005;42(12):922-931.
    • (2005) J Med Genel , vol.42 , Issue.12 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3    Akkermans, N.4    den Dunnen, J.T.5    White, S.J.6
  • 8
    • 0032852919 scopus 로고    scopus 로고
    • Hemoglobinopathy analyses in the Netherlands: A report of an in vitro globin chain biosynthesis survey using a rapid, modified method
    • Giordano PC, van Delft P, Batelaan D, Harteveld CL, Bernini LF. Hemoglobinopathy analyses in the Netherlands: A report of an in vitro globin chain biosynthesis survey using a rapid, modified method. Clin Lab Haematol. 1999;21(4):247-256.
    • (1999) Clin Lab Haematol , vol.21 , Issue.4 , pp. 247-256
    • Giordano, P.C.1    van Delft, P.2    Batelaan, D.3    Harteveld, C.L.4    Bernini, L.F.5
  • 9
    • 0036399359 scopus 로고    scopus 로고
    • Globin chain analysis by reversed phase high performance liquid chromatography: Recent developments
    • Wajcman H, Riou J, Yapo AP. Globin chain analysis by reversed phase high performance liquid chromatography: Recent developments. Hemoglobin. 2002;26(3):271-284.
    • (2002) Hemoglobin , vol.26 , Issue.3 , pp. 271-284
    • Wajcman, H.1    Riou, J.2    Yapo, A.P.3
  • 10
    • 0345440071 scopus 로고    scopus 로고
    • α-Thalassemia in Bantu population from Congo- Brazzaville: Its interaction with sickle cell anemia
    • Mouélé R, Pambou O, Feingold J, Galacteros F. α-Thalassemia in Bantu population from Congo- Brazzaville: Its interaction with sickle cell anemia. Hum lined. 2000;50(2):118-125.
    • (2000) Hum lined , vol.50 , Issue.2 , pp. 118-125
    • Mouélé, R.1    Pambou, O.2    Feingold, J.3    Galacteros, F.4
  • 13
    • 0141841667 scopus 로고    scopus 로고
    • Molecular spectrum of re-thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects
    • Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of re-thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects. Am fllematol. 2003;74(2):99-103.
    • (2003) Am fllematol , vol.74 , Issue.2 , pp. 99-103
    • Harteveld, C.L.1    Yavarian, M.2    Zorai, A.3    Quakkelaar, E.D.4    van Delft, P.5    Giordano, P.C.6
  • 15
    • 1842867709 scopus 로고    scopus 로고
    • Molecular spectrum of re-thalassemia in Tunisia: Epidemiology and detection at birth
    • Zorai A, Harteveld CL, Bakir A, van Delft P, Falfoel A, Dellagi K, et al. Molecular spectrum of re-thalassemia in Tunisia: Epidemiology and detection at birth. Hemoglobin. 2002;26(4):353-362.
    • (2002) Hemoglobin , vol.26 , Issue.4 , pp. 353-362
    • Zorai, A.1    Harteveld, C.L.2    Bakir, A.3    van Delft, P.4    Falfoel, A.5    Dellagi, K.6
  • 16
    • 0029964907 scopus 로고    scopus 로고
    • The triplicated α-globin gene locus in βthalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies
    • Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Nichael T, Metaxotou-Mavromati A, et al. The triplicated α-globin gene locus in βthalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies. Brf Haematol 1996; 95(3):467-471.
    • (1996) Brf Haematol , vol.95 , Issue.3 , pp. 467-471
    • Traeger-Synodinos, J.1    Kanavakis, E.2    Vrettou, C.3    Maragoudaki, E.4    Nichael, T.5    Metaxotou-Mavromati, A.6
  • 17
    • 33846541965 scopus 로고    scopus 로고
    • 2. External quality assessment of Hemoglobin Ag measurement: Data from an Italian pilot study with fresh whole blood samples and commercial HPLC systems
    • 2. External quality assessment of Hemoglobin Ag measurement: Data from an Italian pilot study with fresh whole blood samples and commercial HPLC systems. Clin Chan Lab Med. 2007;45 (1) :88-92.
    • (2007) Clin Chan Lab Med , vol.45 , Issue.1 , pp. 88-92
    • Paleari, R.1    Giambona, A.2    Cannata, M.3    Leto, F.4    Maggio, A.5    Mosca, A.6
  • 18
    • 58349112100 scopus 로고    scopus 로고
    • The role of Hb A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies
    • Mosca A, Paleari R, Ivaldi G, Galanello R, Giordano PC. The role of Hb A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies./ Clin Pathol. 2009;62(2) 13-17.
    • (2009) Clin Pathol , vol.62 , Issue.2 , pp. 13-17
    • Mosca, A.1    Paleari, R.2    Ivaldi, G.3    Galanello, R.4    Giordano, P.C.5
  • 20
    • 0035434205 scopus 로고    scopus 로고
    • Clinical phenotype of triplicated α-globin genes and heterozygosity for β°thalassemia in Chinese subjects
    • Ma SK, Au WY, Chan AY, Chan LC. Clinical phenotype of triplicated α-globin genes and heterozygosity for β°thalassemia in Chinese subjects. InlJ Mol Med. 2001;8(2):171-175.
    • (2001) InlJ Mol Med , vol.8 , Issue.2 , pp. 171-175
    • Ma, S.K.1    Au, W.Y.2    Chan, A.Y.3    Chan, L.C.4
  • 21
    • 0036398935 scopus 로고    scopus 로고
    • Thalassemia intermedia: Heterozygous β-thalassemia and co-inheritance of an re gene triplication
    • Agarwal S, Sarwai S, Agarwal S, Gupta UR, Phadke S. Thalassemia intermedia: Heterozygous β-thalassemia and co-inheritance of an re gene triplication. Hemoglobin. 2002;26(3):321-323.
    • (2002) Hemoglobin , vol.26 , Issue.3 , pp. 321-323
    • Agarwal, S.1    Sarwai, S.2    Agarwal, S.3    Gupta, U.R.4    Phadke, S.5
  • 22
    • 33744933206 scopus 로고    scopus 로고
    • Jaundice and re gene triplication in βthalassemia: Association or causation?
    • Panigrahi I, Mahapatra M, Kumar R, Choudhry VP, Saxena R. Jaundice and re gene triplication in βthalassemia: Association or causation? Hematology. 2006;11(2):109-112.
    • (2006) Hematology , vol.11 , Issue.2 , pp. 109-112
    • Panigrahi, I.1    Mahapatra, M.2    Kumar, R.3    Choudhry, V.P.4    Saxena, R.5
  • 23
    • 41949110058 scopus 로고    scopus 로고
    • Segmental duplications involving the αglobin gene cluster are causing βthalassemia intermedia phenotypes in β-thalassemia heterozygous patients
    • Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC. Segmental duplications involving the αglobin gene cluster are causing βthalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol His. 2008;40(3):312-316.
    • (2008) Blood Cells Mol His , vol.40 , Issue.3 , pp. 312-316
    • Harteveld, C.L.1    Refaldi, C.2    Cassinerio, E.3    Cappellini, M.D.4    Giordano, P.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.