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Volumn 93, Issue 9, 2008, Pages 1380-1384

Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of β-thalassemia

Author keywords

thalassemia; Carrier screening; HbA2 borderline

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; DELTA GLOBIN; HEMOGLOBIN A2; HEMOGLOBIN VARIANT;

EID: 50849139553     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12840     Document Type: Article
Times cited : (62)

References (26)
  • 1
    • 0026596558 scopus 로고
    • Prenatal diagnosis of haemoglobinopathies in Sicily
    • Maggio A, Caronia F, Orlandi F. Prenatal diagnosis of haemoglobinopathies in Sicily. The Lancet 1992;339:1361-2.
    • (1992) The Lancet , vol.339 , pp. 1361-1362
    • Maggio, A.1    Caronia, F.2    Orlandi, F.3
  • 2
    • 0033373391 scopus 로고    scopus 로고
    • Molecular, haematological and clinical studies of the -101 C_T substitution of the beta globin gene promoter in 25 beta-thalassemia intermedia patients and 45 heterozygotes
    • Maragoudaki KE, Kanavakis E, Traeger-Synodinos J, Vrettou C, Tzetis M, Metaxotou-Mavrommati A, et al. Molecular, haematological and clinical studies of the -101 C_T substitution of the beta globin gene promoter in 25 beta-thalassemia intermedia patients and 45 heterozygotes. Am J Hematol 1999;107:699-706.
    • (1999) Am J Hematol , vol.107 , pp. 699-706
    • Maragoudaki, K.E.1    Kanavakis, E.2    Traeger-Synodinos, J.3    Vrettou, C.4    Tzetis, M.5    Metaxotou-Mavrommati, A.6
  • 8
    • 33845924722 scopus 로고    scopus 로고
    • Analysis of δ-globin gene alleles in the Sicilian population: Identification of five new mutations
    • Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzà M, et al. Analysis of δ-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica 2006;91:1684-7.
    • (2006) Haematologica , vol.91 , pp. 1684-1687
    • Giambona, A.1    Passarello, C.2    Ruggeri, G.3    Renda, D.4    Teresi, P.5    Anzà, M.6
  • 9
    • 0019949838 scopus 로고
    • Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
    • Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, et al. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982;296:627-31.
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr, H.H.2    Antonarakis, S.E.3    Goff, S.C.4    Boehm, C.D.5    Sexton, J.P.6
  • 10
    • 0019219843 scopus 로고
    • Two different molecular organizations account for the single α- globin gene of the α-thalassemia-2 genotype
    • Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D. Two different molecular organizations account for the single α- globin gene of the α-thalassemia-2 genotype. J Clin Invest 1980;66:1319-25.
    • (1980) J Clin Invest , vol.66 , pp. 1319-1325
    • Embury, S.H.1    Miller, J.A.2    Dozy, A.M.3    Kan, Y.W.4    Chan, V.5    Todd, D.6
  • 12
    • 0019824694 scopus 로고
    • Mutation in an intervening sequence splice junction in man
    • Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA 1981;78:5041-5.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 5041-5045
    • Orkin, S.H.1    Goff, S.C.2    Hechtman, R.L.3
  • 13
    • 0032712115 scopus 로고    scopus 로고
    • Association of unstable hemoglobin variants and heterozygous β-thalassemia: Example of a new variant Hb Acharnes or [β53(D4) Ala - > Thr]
    • Papassotiriou I, Traeger-Synodinos J, Prome D, Kister J, Stamou E Liakopoulou T, et al. Association of unstable hemoglobin variants and heterozygous β-thalassemia: example of a new variant Hb Acharnes or [β53(D4) Ala - > Thr]. Am J Hematol 1999;62:186-92.
    • (1999) Am J Hematol , vol.62 , pp. 186-192
    • Papassotiriou, I.1    Traeger-Synodinos, J.2    Prome, D.3    Kister, J.4    Stamou, E.5    Liakopoulou, T.6
  • 14
    • 18644385340 scopus 로고    scopus 로고
    • Hb Groene Hart: A new Pro->Ser amino acid substitution at position 119 of the α1-globin chain is associated with a mild α-thalassemia phenotype
    • Harteveld CL, Van Delft P, Plug R, Versteegh FG, Hagen B, Van Rooijen I, et al. Hb Groene Hart: a new Pro->Ser amino acid substitution at position 119 of the α1-globin chain is associated with a mild α-thalassemia phenotype. Hemoglobin 2002;26:255-60.
    • (2002) Hemoglobin , vol.26 , pp. 255-260
    • Harteveld, C.L.1    Van Delft, P.2    Plug, R.3    Versteegh, F.G.4    Hagen, B.5    Van Rooijen, I.6
  • 15
    • 0033626005 scopus 로고    scopus 로고
    • Hb Ernz [β123(H1)Thr>Asn] and Hb Renert [β133(H1)Val>Ala]: Two new neutral variants revealed by reversed phase high performance liquid chromatography analysis
    • Groff P, Kalmes G, Golinska B, Miyazaki A, Riou J, Carte N, et al. Hb Ernz [β123(H1)Thr>Asn] and Hb Renert [β133(H1)Val>Ala]: Two new neutral variants revealed by reversed phase high performance liquid chromatography analysis. Hemoglobin 2000;24:287-97.
    • (2000) Hemoglobin , vol.24 , pp. 287-297
    • Groff, P.1    Kalmes, G.2    Golinska, B.3    Miyazaki, A.4    Riou, J.5    Carte, N.6
  • 16
    • 0026586482 scopus 로고
    • Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of β-globin gene
    • Cai SP, Eng B, Francombe WH, Olivieri NF, Kendall AG, Waye JS, et al. Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of β-globin gene. Blood 1992;79:1342-6.
    • (1992) Blood , vol.79 , pp. 1342-1346
    • Cai, S.P.1    Eng, B.2    Francombe, W.H.3    Olivieri, N.F.4    Kendall, A.G.5    Waye, J.S.6
  • 17
    • 0026662998 scopus 로고
    • The C T substitution at nucleotide + 1570 of the β globin gene is a polymorphism
    • Eng B, Waye JS, Chui DHK. The C T substitution at nucleotide + 1570 of the β globin gene is a polymorphism. Blood 1992;80:1365.
    • (1992) Blood , vol.80 , pp. 1365
    • Eng, B.1    Waye, J.S.2    Chui, D.H.K.3
  • 18
    • 0031972656 scopus 로고    scopus 로고
    • β-thalassemia intermedia: Is it possible to consistently predict phenotype from genotype?
    • Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL. β-thalassemia intermedia: is it possible to consistently predict phenotype from genotype? Br J Haematology 1998;100:70-8.
    • (1998) Br J Haematology , vol.100 , pp. 70-78
    • Ho, P.J.1    Hall, G.W.2    Luo, L.Y.3    Weatherall, D.J.4    Thein, S.L.5
  • 19
    • 0028279382 scopus 로고
    • Genotype of subjects with borderline hemoglobin A2 levels: Implication for β-thalassemia carrier screening
    • Galanello R, Barella S, Ideo A, Gasparini D, Rosatelli C, Paderi L, et al. Genotype of subjects with borderline hemoglobin A2 levels: implication for β-thalassemia carrier screening. Am J Hematol 1994;46:79-81.
    • (1994) Am J Hematol , vol.46 , pp. 79-81
    • Galanello, R.1    Barella, S.2    Ideo, A.3    Gasparini, D.4    Rosatelli, C.5    Paderi, L.6
  • 21
    • 0025749681 scopus 로고
    • (α)α 5.3: A novel α(+)-thalassemia deletion with the breakpoints in the α 2-globin gene and in close proximity to an Alu family repeat between the psi α 2- and psi α 1-globin genes
    • Lacerra G, Fioretti G, De Angioletti M, Pagano L, Guarino E, de Bonis C, et al. (α)α 5.3: a novel α(+)-thalassemia deletion with the breakpoints in the α 2-globin gene and in close proximity to an Alu family repeat between the psi α 2- and psi α 1-globin genes. Blood 1991;78:2740-6.
    • (1991) Blood , vol.78 , pp. 2740-2746
    • Lacerra, G.1    Fioretti, G.2    De Angioletti, M.3    Pagano, L.4    Guarino, E.5    de Bonis, C.6
  • 22
    • 0028942051 scopus 로고
    • Genetic interactions in thalassemia intermedia: Analysis of β-mutations, α-genotype, γ-promoters and β-LCR hypersensitive sites 2 and 4 in Italian patients
    • Camaschella C, Mazza U, Roetto A, Gottardi E, Parziale A, Travi M. Genetic interactions in thalassemia intermedia: analysis of β-mutations, α-genotype, γ-promoters and β-LCR hypersensitive sites 2 and 4 in Italian patients. Am J Haematol 1995;48:82-7.
    • (1995) Am J Haematol , vol.48 , pp. 82-87
    • Camaschella, C.1    Mazza, U.2    Roetto, A.3    Gottardi, E.4    Parziale, A.5    Travi, M.6
  • 23
    • 0027335614 scopus 로고
    • Increase of hemoglobin A2 in human immunodeficienty virus-1 infected patients treated with zidovudine
    • Routy JP, Monte M, Beaulieu R, Toma E, ST-Pierre L, Dumont M. Increase of hemoglobin A2 in human immunodeficienty virus-1 infected patients treated with zidovudine. Am J Hematol 1993;43:86-90.
    • (1993) Am J Hematol , vol.43 , pp. 86-90
    • Routy, J.P.1    Monte, M.2    Beaulieu, R.3    Toma, E.4    ST-Pierre, L.5    Dumont, M.6
  • 24
    • 0019731895 scopus 로고
    • Hemoglobin A2 in hyperthyroidism
    • Kendall AG, Bastomsky CH. Hemoglobin A2 in hyperthyroidism Hemoglobin 1981;5:571-7.
    • (1981) Hemoglobin , vol.5 , pp. 571-577
    • Kendall, A.G.1    Bastomsky, C.H.2
  • 26
    • 33846541965 scopus 로고    scopus 로고
    • External quality assessment of HbA2 measurement: Data from an Italian pilot study with fresh whole samples and commercial HPLC systems
    • Paleari R, Giambona A, Cannata M, Leto F, Maggio A, Mosca A. External quality assessment of HbA2 measurement: data from an Italian pilot study with fresh whole samples and commercial HPLC systems. Clin Chem 2007;45:88-92.
    • (2007) Clin Chem , vol.45 , pp. 88-92
    • Paleari, R.1    Giambona, A.2    Cannata, M.3    Leto, F.4    Maggio, A.5    Mosca, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.