메뉴 건너뛰기




Volumn 42, Issue 18, 2009, Pages 1786-1796

The significance of the hemoglobin A2 value in screening for hemoglobinopathies

Author keywords

thalassemia; thalassemia; HbA2 borderline; Hemoglobin A2; Hemoglobinopathy screening

Indexed keywords

GLOBIN; HEMOGLOBIN A2;

EID: 70449713562     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.06.026     Document Type: Review
Times cited : (85)

References (163)
  • 1
    • 0034889014 scopus 로고    scopus 로고
    • Inherited haemoglobin disorders: an increasing global health problems
    • Weatherall D.J., and Clegg J.B. Inherited haemoglobin disorders: an increasing global health problems. Bull. W. H. O. 79 (2001) 740-741
    • (2001) Bull. W. H. O. , vol.79 , pp. 740-741
    • Weatherall, D.J.1    Clegg, J.B.2
  • 3
    • 0031855380 scopus 로고
    • Global epidemiology of haemoglobin disorders
    • Angastiniotis M., and Modell B. Global epidemiology of haemoglobin disorders. Ann. N. Y. Acad. Sci. 850 (1988) 251-269
    • (1988) Ann. N. Y. Acad. Sci. , vol.850 , pp. 251-269
    • Angastiniotis, M.1    Modell, B.2
  • 5
    • 0032803572 scopus 로고    scopus 로고
    • Thalassemia and malaria: new insights into and an old problem
    • Clegg J.B., and Weatherall D.J. Thalassemia and malaria: new insights into and an old problem. Proc. Assoc. Am. Physicians 111 (1999) 278-282
    • (1999) Proc. Assoc. Am. Physicians , vol.111 , pp. 278-282
    • Clegg, J.B.1    Weatherall, D.J.2
  • 6
    • 0345767281 scopus 로고    scopus 로고
    • Haemoglobinopathies and resistance to malaria
    • Roberts D.J., and Williams T.N. Haemoglobinopathies and resistance to malaria. Redox Rep. 8 (2003) 304-310
    • (2003) Redox Rep. , vol.8 , pp. 304-310
    • Roberts, D.J.1    Williams, T.N.2
  • 8
    • 0027155952 scopus 로고
    • Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants
    • Flint J., Harding R.M., Clegg J.B., and Boyce A.J. Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet 91 (1993) 91-117
    • (1993) Hum Genet , vol.91 , pp. 91-117
    • Flint, J.1    Harding, R.M.2    Clegg, J.B.3    Boyce, A.J.4
  • 10
    • 0002057809 scopus 로고    scopus 로고
    • Worldwide distribution of thalassemia
    • Steimberg M.H., Forget B., Higgs DR., and Nagel R.I. (Eds), Cambridge University Press
    • Loukopoulos D., and Kollia P. Worldwide distribution of thalassemia. In: Steimberg M.H., Forget B., Higgs DR., and Nagel R.I. (Eds). Disorders of hemoglobin. Genetics, pathophysiology and clinical management (2001), Cambridge University Press 861-877
    • (2001) Disorders of hemoglobin. Genetics, pathophysiology and clinical management , pp. 861-877
    • Loukopoulos, D.1    Kollia, P.2
  • 11
    • 0023632123 scopus 로고
    • Prevention of thalassemia and haemoglobin S syndromes in Greece
    • Fessas P. Prevention of thalassemia and haemoglobin S syndromes in Greece. Acta Haematol. 78 (1987) 68-72
    • (1987) Acta Haematol. , vol.78 , pp. 68-72
    • Fessas, P.1
  • 12
    • 33846139589 scopus 로고    scopus 로고
    • Hemoglobinopathies in Tunisia. An updated review of the epidemiologic and molecular data
    • Fattoum S. Hemoglobinopathies in Tunisia. An updated review of the epidemiologic and molecular data. Tunis Med. 84 (2006) 687-696
    • (2006) Tunis Med. , vol.84 , pp. 687-696
    • Fattoum, S.1
  • 13
    • 0027422819 scopus 로고
    • Molecular characterization of β-thalassemia in Hungary
    • Ringelhann B., Szelenyi J.G., Horanyi M., et al. Molecular characterization of β-thalassemia in Hungary. Hum. Genet. 92 (1993) 385-387
    • (1993) Hum. Genet. , vol.92 , pp. 385-387
    • Ringelhann, B.1    Szelenyi, J.G.2    Horanyi, M.3
  • 14
    • 70449733073 scopus 로고    scopus 로고
    • Beta-thalassemia in Poland. I. Mediterranean Mutations in beta-thalassemia
    • Zdeska E., Krawcewicz A., Adamowicz-Salach A., et al. Beta-thalassemia in Poland. I. Mediterranean Mutations in beta-thalassemia. Pol. Merkuriusz. Lek. 20 (2006) 53-56
    • (2006) Pol. Merkuriusz. Lek. , vol.20 , pp. 53-56
    • Zdeska, E.1    Krawcewicz, A.2    Adamowicz-Salach, A.3
  • 15
    • 33645275494 scopus 로고    scopus 로고
    • Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population
    • Knott M., Ramadan K.M., Savage G., et al. Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population. Blood Cells Mol. Dis. 36 (2006) 265-268
    • (2006) Blood Cells Mol. Dis. , vol.36 , pp. 265-268
    • Knott, M.1    Ramadan, K.M.2    Savage, G.3
  • 17
    • 33644701423 scopus 로고    scopus 로고
    • Changes in epidemiology of the thalassemia in the North America: a new minority disease
    • Vichinsky E.P., MacKlin E.A., Waye J.S., Lorey F., and Olivieri N.F. Changes in epidemiology of the thalassemia in the North America: a new minority disease. Pediatrics 116 (2005) 818-825
    • (2005) Pediatrics , vol.116 , pp. 818-825
    • Vichinsky, E.P.1    MacKlin, E.A.2    Waye, J.S.3    Lorey, F.4    Olivieri, N.F.5
  • 18
    • 62449272809 scopus 로고    scopus 로고
    • Newborn screening for hemoglobinopathies in California
    • Michlitsch J., Azimi M., Hoppe C., et al. Newborn screening for hemoglobinopathies in California. Pediatr. Blood Cancer 52 (2009) 486-490
    • (2009) Pediatr. Blood Cancer , vol.52 , pp. 486-490
    • Michlitsch, J.1    Azimi, M.2    Hoppe, C.3
  • 19
    • 0023112573 scopus 로고
    • Hemoglobinopathies in Southeast Asia
    • Fucharoen S., and Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin 11 (1987) 65-88
    • (1987) Hemoglobin , vol.11 , pp. 65-88
    • Fucharoen, S.1    Winichagoon, P.2
  • 20
    • 4243908678 scopus 로고
    • Geographic distribution of hemoglobin variants in Southern Asia. Winter in WP. Hemoglobin variants in human populations
    • Wasi P. Geographic distribution of hemoglobin variants in Southern Asia. Winter in WP. Hemoglobin variants in human populations. Floridia: CRC Press Inc. 2 (1986) 111-127
    • (1986) Floridia: CRC Press Inc. , vol.2 , pp. 111-127
    • Wasi, P.1
  • 21
    • 0021281067 scopus 로고
    • A screening programme for the prospective prevention of Mediterranean anaemia in Latium: results of seven years' work
    • Bianco I., Graziani B., Lerone M., et al. A screening programme for the prospective prevention of Mediterranean anaemia in Latium: results of seven years' work. J. Med. Genet. 21 (1984) 268-271
    • (1984) J. Med. Genet. , vol.21 , pp. 268-271
    • Bianco, I.1    Graziani, B.2    Lerone, M.3
  • 23
    • 0023935542 scopus 로고
    • Haplotypes of thalassaemic families from the Po river delta: importance for prenatal diagnosis of beta-thalassaemia
    • Toffoli C., Venturoli A., Bardi A., Lucci M., and Vullo C. Haplotypes of thalassaemic families from the Po river delta: importance for prenatal diagnosis of beta-thalassaemia. Eur. J. Haematol. 40 (1988) 410-414
    • (1988) Eur. J. Haematol. , vol.40 , pp. 410-414
    • Toffoli, C.1    Venturoli, A.2    Bardi, A.3    Lucci, M.4    Vullo, C.5
  • 24
    • 0023549546 scopus 로고
    • Beta-thalassaemia in Campania: DNA polymorphism analysis in beta A and beta thal chromosomes and its usefulness in prenatal diagnosis
    • Carestia C., Pagano L., Fioretti G., and Mastrobuoni A. Beta-thalassaemia in Campania: DNA polymorphism analysis in beta A and beta thal chromosomes and its usefulness in prenatal diagnosis. Br. J. Haematol. 67 (1987) 231-234
    • (1987) Br. J. Haematol. , vol.67 , pp. 231-234
    • Carestia, C.1    Pagano, L.2    Fioretti, G.3    Mastrobuoni, A.4
  • 25
    • 0029679804 scopus 로고    scopus 로고
    • Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience
    • Cao A., Rosatelli M.C., and Galanello R. Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience. Ciba Found. Symp. 197 (1996) 137-151
    • (1996) Ciba Found. Symp. , vol.197 , pp. 137-151
    • Cao, A.1    Rosatelli, M.C.2    Galanello, R.3
  • 26
    • 30944436542 scopus 로고
    • Genotype-phenotype correlations in beta-thalassemias
    • Cao A., Galanello R., and Rosatelli M.C. Genotype-phenotype correlations in beta-thalassemias. Blood Rev. 8 (1994) 1-12
    • (1994) Blood Rev. , vol.8 , pp. 1-12
    • Cao, A.1    Galanello, R.2    Rosatelli, M.C.3
  • 27
    • 17644447555 scopus 로고    scopus 로고
    • Silent thalassemias: genotypes and phenotypes
    • Bianco I., Cappabianca M.P., Foglietta E., et al. Silent thalassemias: genotypes and phenotypes. Haematologica 82 (1997) 269-280
    • (1997) Haematologica , vol.82 , pp. 269-280
    • Bianco, I.1    Cappabianca, M.P.2    Foglietta, E.3
  • 28
    • 0029021881 scopus 로고
    • The great heterogeneity of thalassemia molecular defects in Sicily
    • Giambona A., Lo Gioco P., Marino M., et al. The great heterogeneity of thalassemia molecular defects in Sicily. Hum. Genet. 95 (1995) 526-530
    • (1995) Hum. Genet. , vol.95 , pp. 526-530
    • Giambona, A.1    Lo Gioco, P.2    Marino, M.3
  • 31
    • 0028279382 scopus 로고
    • 2 levels: implication for beta-thalassemia carrier screening
    • 2 levels: implication for beta-thalassemia carrier screening. Am. J. Hematol. 46 (1994) 79-81
    • (1994) Am. J. Hematol. , vol.46 , pp. 79-81
    • Galanello, R.1    Barella, S.2    Ideo, A.3
  • 32
    • 27644467092 scopus 로고    scopus 로고
    • Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies
    • Patrinos G.P., Kollia P., and Papadakis N. Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum. Mut. 26 (2005) 399-412
    • (2005) Hum. Mut. , vol.26 , pp. 399-412
    • Patrinos, G.P.1    Kollia, P.2    Papadakis, N.3
  • 33
    • 0031872838 scopus 로고
    • Relationship between genotype and phenotype. Thalassemia intermedia
    • Galanello R., and Cao A. Relationship between genotype and phenotype. Thalassemia intermedia. Ann. N. Y. Acad. Sci. 850 (1988) 325-333
    • (1988) Ann. N. Y. Acad. Sci. , vol.850 , pp. 325-333
    • Galanello, R.1    Cao, A.2
  • 34
    • 67449098138 scopus 로고    scopus 로고
    • Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations
    • Giordano P.C., Bakker-Verwij M., and Harteveld C.L. Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations. Hemoglobin 33 (2009) 124-131
    • (2009) Hemoglobin , vol.33 , pp. 124-131
    • Giordano, P.C.1    Bakker-Verwij, M.2    Harteveld, C.L.3
  • 35
    • 0346167696 scopus 로고    scopus 로고
    • Carrier screening and genetic counselling in beta-thalassemia
    • Cao A. Carrier screening and genetic counselling in beta-thalassemia. Int. J. Hematol. 76 (2002) 105-113
    • (2002) Int. J. Hematol. , vol.76 , pp. 105-113
    • Cao, A.1
  • 36
    • 1842844211 scopus 로고    scopus 로고
    • Thalassemia mutations and their clinical aspects in Japan
    • Hattori Y. Thalassemia mutations and their clinical aspects in Japan. Int. J. Hematol. 76 (2002) 90-92
    • (2002) Int. J. Hematol. , vol.76 , pp. 90-92
    • Hattori, Y.1
  • 37
    • 0000831381 scopus 로고    scopus 로고
    • Stamatoyannopoulos G., Majerus P.W., Perimutter R.M., and Varmus H. (Eds), Saunders, New York
    • Stamatoyannopoulos G., and Grosveld F. In: Stamatoyannopoulos G., Majerus P.W., Perimutter R.M., and Varmus H. (Eds). The molecular basis of blood disease (2001), Saunders, New York 135-182
    • (2001) The molecular basis of blood disease , pp. 135-182
    • Stamatoyannopoulos, G.1    Grosveld, F.2
  • 38
    • 0025925290 scopus 로고
    • 2: origin, evolution and aftermath
    • 2: origin, evolution and aftermath. Blood 78 (1991) 2165-2177
    • (1991) Blood , vol.78 , pp. 2165-2177
    • Steimberg, M.H.1    Adams, J.H.2
  • 40
    • 0001654842 scopus 로고
    • Observations of the minor basic hemoglobin component in the blood of normal individuals and patients with thalassemia
    • Kunkel H.G., Ceppelini R., Muller-Eberhard U., and Wolf J. Observations of the minor basic hemoglobin component in the blood of normal individuals and patients with thalassemia. J. Clin. Invest. 36 (1957) 1615-1625
    • (1957) J. Clin. Invest. , vol.36 , pp. 1615-1625
    • Kunkel, H.G.1    Ceppelini, R.2    Muller-Eberhard, U.3    Wolf, J.4
  • 41
    • 70449717909 scopus 로고
    • Human globin gene expression: control of beta, delta and delta beta chain production
    • Wood W.G., Old J.M., Roberts A.V., Clegg J.B., and Weatherall D.J. Human globin gene expression: control of beta, delta and delta beta chain production. Cell 6 (1982) 437-446
    • (1982) Cell , vol.6 , pp. 437-446
    • Wood, W.G.1    Old, J.M.2    Roberts, A.V.3    Clegg, J.B.4    Weatherall, D.J.5
  • 42
    • 0020354144 scopus 로고
    • Differences in human alpha-, beta- and delta-globin gene expression in monkey kidney cells
    • Humphries R.K., Ley T., Turner P., Moulton A.D., and Nienhuis A.W. Differences in human alpha-, beta- and delta-globin gene expression in monkey kidney cells. Cell 30 (1982) 173-183
    • (1982) Cell , vol.30 , pp. 173-183
    • Humphries, R.K.1    Ley, T.2    Turner, P.3    Moulton, A.D.4    Nienhuis, A.W.5
  • 43
    • 0025362668 scopus 로고
    • Beta-globin dominant control region interacts differently with distal and proximal promoter elements
    • Antoniou M., and Grosveld F. Beta-globin dominant control region interacts differently with distal and proximal promoter elements. Genes Dev. 4 (1990) 1007-1013
    • (1990) Genes Dev. , vol.4 , pp. 1007-1013
    • Antoniou, M.1    Grosveld, F.2
  • 44
    • 0035883048 scopus 로고    scopus 로고
    • novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia
    • Zertal-Zidani S., Ducrocq R., Weil-Olivier C., Elion J., and Krishnamoorthy R.A. novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia. Blood 98 (2001) 1261-1263
    • (2001) Blood , vol.98 , pp. 1261-1263
    • Zertal-Zidani, S.1    Ducrocq, R.2    Weil-Olivier, C.3    Elion, J.4    Krishnamoorthy, R.A.5
  • 45
    • 0023632121 scopus 로고
    • Strategy for structural characterization of haemoglobin variants
    • Baudin-Chich V., Rochette J., and Wajcman H. Strategy for structural characterization of haemoglobin variants. Acta Haematol. 78 (1987) 127-129
    • (1987) Acta Haematol. , vol.78 , pp. 127-129
    • Baudin-Chich, V.1    Rochette, J.2    Wajcman, H.3
  • 46
    • 38749128724 scopus 로고    scopus 로고
    • Mass spectrometry: a tool for enhanced detection of hemoglobin variants
    • Kleinert P., Schmid M., Zurbriggen K., et al. Mass spectrometry: a tool for enhanced detection of hemoglobin variants. Clin. Chem. 54 (2008) 69-76
    • (2008) Clin. Chem. , vol.54 , pp. 69-76
    • Kleinert, P.1    Schmid, M.2    Zurbriggen, K.3
  • 47
    • 0033900308 scopus 로고    scopus 로고
    • Laboratory investigation of hemoglobinopathies and thalassemia: review and update
    • Clarke G., and Higgins T.N. Laboratory investigation of hemoglobinopathies and thalassemia: review and update. Clin. Chem. 46 (2000) 1284-1290
    • (2000) Clin. Chem. , vol.46 , pp. 1284-1290
    • Clarke, G.1    Higgins, T.N.2
  • 48
    • 0037365343 scopus 로고    scopus 로고
    • Screening and genetic diagnosis of haemoglobin disorders
    • Old J.M. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev. 17 (2003) 43-53
    • (2003) Blood Rev. , vol.17 , pp. 43-53
    • Old, J.M.1
  • 51
    • 0018179793 scopus 로고
    • Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants and to the study of modified fractions of normal hemoglobins
    • Basset P., Beuzard Y., Garrel M.C., and Rosa J. Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants and to the study of modified fractions of normal hemoglobins. Blood 51 (1978) 971-982
    • (1978) Blood , vol.51 , pp. 971-982
    • Basset, P.1    Beuzard, Y.2    Garrel, M.C.3    Rosa, J.4
  • 52
    • 0017802956 scopus 로고
    • Recommendations for reference method for haemoglobinometry in human blood (ICSH standard EP 6/2: 1977) and specifications for international haemiglobin cyanide reference preparation (ICSH standard EP 6/3: 1977)
    • International Committee for Standardization in Haematology
    • International Committee for Standardization in Haematology. Recommendations for reference method for haemoglobinometry in human blood (ICSH standard EP 6/2: 1977) and specifications for international haemiglobin cyanide reference preparation (ICSH standard EP 6/3: 1977). J. Clin. Pathol. 31 (1978) 139-143
    • (1978) J. Clin. Pathol. , vol.31 , pp. 139-143
  • 55
    • 0017367849 scopus 로고
    • 2 with DE-52 microchromatography in whole blood as screening test for beta thalassemia heterozygotes
    • 2 with DE-52 microchromatography in whole blood as screening test for beta thalassemia heterozygotes. Acta Haematol. 57 (1977) 32-36
    • (1977) Acta Haematol. , vol.57 , pp. 32-36
    • Galanello, R.1    Melis, M.A.2    Muroni, P.3    Cao, A.4
  • 58
    • 0031129267 scopus 로고    scopus 로고
    • 2 quantitation assay and hemoglobin variant screening by capillary electrophoresis
    • 2 quantitation assay and hemoglobin variant screening by capillary electrophoresis. J. Capillary Electrophor. 4 (1997) 137-143
    • (1997) J. Capillary Electrophor. , vol.4 , pp. 137-143
    • Jenkins, M.A.1    Hendy, J.2    Smith, I.L.3
  • 59
    • 0038235219 scopus 로고    scopus 로고
    • Capillary electrophoresis of hemoglobin
    • Jenkins M., and Ratnaike S. Capillary electrophoresis of hemoglobin. Clin. Chem. Lab. Med. 41 (2003) 747-754
    • (2003) Clin. Chem. Lab. Med. , vol.41 , pp. 747-754
    • Jenkins, M.1    Ratnaike, S.2
  • 60
    • 33747649729 scopus 로고    scopus 로고
    • CE-based analysis of hemoglobin and its applications
    • Wang J., Zhou S., Huang W., et al. CE-based analysis of hemoglobin and its applications. Clin. Anal. Electrophor. 27 (2006) 3108-3124
    • (2006) Clin. Anal. Electrophor. , vol.27 , pp. 3108-3124
    • Wang, J.1    Zhou, S.2    Huang, W.3
  • 63
    • 0030809621 scopus 로고    scopus 로고
    • Capillary isoelectric focusing of hemoglobin variants in the pediatric clinical laboratory
    • Hempe J.M., Granger J.N., and Craver R.D. Capillary isoelectric focusing of hemoglobin variants in the pediatric clinical laboratory. Electrophoresis 18 (1997) 1785-1795
    • (1997) Electrophoresis , vol.18 , pp. 1785-1795
    • Hempe, J.M.1    Granger, J.N.2    Craver, R.D.3
  • 64
    • 0026758527 scopus 로고
    • Detection of abnormal haemoglobin by capillary electrophoresis and structural identification
    • Ishioka N., Iyori N., Noji J., and Kurioka S. Detection of abnormal haemoglobin by capillary electrophoresis and structural identification. Biomed. Chromatogr. 6 (1992) 224-226
    • (1992) Biomed. Chromatogr. , vol.6 , pp. 224-226
    • Ishioka, N.1    Iyori, N.2    Noji, J.3    Kurioka, S.4
  • 65
    • 0030683957 scopus 로고    scopus 로고
    • Capillary isoelectric focusing and high-performance cation-exchange chromatography compared for qualitative and quantitative analysis of hemoglobin variants
    • Mario N., Baudin B., Aussel C., and Giboudeau J. Capillary isoelectric focusing and high-performance cation-exchange chromatography compared for qualitative and quantitative analysis of hemoglobin variants. Clin. Chem. 43 (1997) 2137-2142
    • (1997) Clin. Chem. , vol.43 , pp. 2137-2142
    • Mario, N.1    Baudin, B.2    Aussel, C.3    Giboudeau, J.4
  • 66
    • 0029046964 scopus 로고
    • Evaluation of an automatic HPLC analyser for thalassemia and haemoglobin variants screening
    • Galanello R., Barella S., Gasperini D., et al. Evaluation of an automatic HPLC analyser for thalassemia and haemoglobin variants screening. J. Automat. Chem. 17 (1995) 73-76
    • (1995) J. Automat. Chem. , vol.17 , pp. 73-76
    • Galanello, R.1    Barella, S.2    Gasperini, D.3
  • 67
  • 70
    • 0037003396 scopus 로고    scopus 로고
    • Evaluation of a dual hemoglobin A(2)/A(1c) quantitation kit on the bio-rad variant II automated hemoglobin analyzer
    • Lafferty J.D., McFarlane A.G., and K Chui D.H. Evaluation of a dual hemoglobin A(2)/A(1c) quantitation kit on the bio-rad variant II automated hemoglobin analyzer. Arch. Pathol. Lab. Med. 126 (2002) 1494-1500
    • (2002) Arch. Pathol. Lab. Med. , vol.126 , pp. 1494-1500
    • Lafferty, J.D.1    McFarlane, A.G.2    K Chui, D.H.3
  • 71
    • 0032812453 scopus 로고    scopus 로고
    • Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening
    • Campbell M., Henthorn J.S., and Davies S.C. Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. Clin. Chem. 45 (1999) 969-975
    • (1999) Clin. Chem. , vol.45 , pp. 969-975
    • Campbell, M.1    Henthorn, J.S.2    Davies, S.C.3
  • 72
    • 0019732728 scopus 로고
    • 2 is higher in sickle cell trait than in normal homozygotes
    • 2 is higher in sickle cell trait than in normal homozygotes. Hemoglobin 5 (1981) 371-378
    • (1981) Hemoglobin , vol.5 , pp. 371-378
    • Whitten, W.J.1    Rucknagel, D.L.2
  • 74
    • 0015384408 scopus 로고
    • 2 in patients with AC trait, CC disease, and C-thalassemia
    • 2 in patients with AC trait, CC disease, and C-thalassemia. Clin. Chim. Acta 40 (1972) 159-163
    • (1972) Clin. Chim. Acta , vol.40 , pp. 159-163
    • Huisman, T.H.1
  • 75
    • 85084749247 scopus 로고    scopus 로고
    • Interference of hemoglobin D in hemoglobin A(2) measurement by cation-exchange HPLC
    • Cotton F., Gulbis B., Hansen V., and Vertongen F. Interference of hemoglobin D in hemoglobin A(2) measurement by cation-exchange HPLC. Clin. Chem. 44 (1998) 2381-2382
    • (1998) Clin. Chem. , vol.44 , pp. 2381-2382
    • Cotton, F.1    Gulbis, B.2    Hansen, V.3    Vertongen, F.4
  • 76
    • 85084749247 scopus 로고    scopus 로고
    • Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype
    • Huisman T.H. Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype. Clin. Chem. 44 (1998) 2381-2382
    • (1998) Clin. Chem. , vol.44 , pp. 2381-2382
    • Huisman, T.H.1
  • 77
    • 2042538031 scopus 로고    scopus 로고
    • Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak
    • Sanchaisuriya K., Chunpanich S., Fucharoen G., and Fucharoen S. Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak. Clin. Chim. Acta 343 (2004) 129-134
    • (2004) Clin. Chim. Acta , vol.343 , pp. 129-134
    • Sanchaisuriya, K.1    Chunpanich, S.2    Fucharoen, G.3    Fucharoen, S.4
  • 78
    • 34248136754 scopus 로고    scopus 로고
    • Diagnosis of the hemoglobinopathies
    • Trent R.J.A. Diagnosis of the hemoglobinopathies. Clin. Biochem. 27 (2006) 27-38
    • (2006) Clin. Biochem. , vol.27 , pp. 27-38
    • Trent, R.J.A.1
  • 79
    • 34248186004 scopus 로고    scopus 로고
    • Diagnostic approach to hemoglobinopathies
    • Kutlar F. Diagnostic approach to hemoglobinopathies. Hemoglobin 31 (2007) 243-250
    • (2007) Hemoglobin , vol.31 , pp. 243-250
    • Kutlar, F.1
  • 80
    • 70449711730 scopus 로고
    • Guideline: the laboratory diagnosis of haemoglobinopathies
    • Working Party of the General Haematology Task Force of the British Committee for Standards in Haematology
    • Working Party of the General Haematology Task Force of the British Committee for Standards in Haematology. Guideline: the laboratory diagnosis of haemoglobinopathies. Br. J. Haematol. 101 (1988) 783-792
    • (1988) Br. J. Haematol. , vol.101 , pp. 783-792
  • 81
    • 0026564823 scopus 로고    scopus 로고
    • Heterozygous β-thalassemia: relationship between the hematological phenotype and the type of β-thalassemia mutation
    • Rosatelli C., Leoni G.B., Tuveri T., et al. Heterozygous β-thalassemia: relationship between the hematological phenotype and the type of β-thalassemia mutation. Am. J. Hematol. 39 (2006) 1-4
    • (2006) Am. J. Hematol. , vol.39 , pp. 1-4
    • Rosatelli, C.1    Leoni, G.B.2    Tuveri, T.3
  • 82
    • 33846994420 scopus 로고    scopus 로고
    • Screening and genetic diagnosis of haemoglobinopathies
    • Old J.M. Screening and genetic diagnosis of haemoglobinopathies. Scand. J. Clin. Invest. 67 (2007) 71-86
    • (2007) Scand. J. Clin. Invest. , vol.67 , pp. 71-86
    • Old, J.M.1
  • 84
    • 0030608774 scopus 로고    scopus 로고
    • 2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter
    • 2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. Acta Haematol. 98 (1997) 187-194
    • (1997) Acta Haematol. , vol.98 , pp. 187-194
    • Huisman, T.H.1
  • 85
    • 0018952101 scopus 로고
    • Haemoglobin Lepore Boston-Washington in Sicily: clinical, haematological, and biosynthetic studies
    • Schiliro G., Musumeci S., Pizzarelli G., Fischer A., Romero M.A., and Russo G. Haemoglobin Lepore Boston-Washington in Sicily: clinical, haematological, and biosynthetic studies. J. Med. Genet. 17 (1980) 179-182
    • (1980) J. Med. Genet. , vol.17 , pp. 179-182
    • Schiliro, G.1    Musumeci, S.2    Pizzarelli, G.3    Fischer, A.4    Romero, M.A.5    Russo, G.6
  • 86
    • 0023937374 scopus 로고
    • Variation in clinical severity among patients with Hb Lepore-Boston-β-thalassaemia is related to the type of β-thalassaemia
    • Efremov D.G., Efremov G.D., Zisovski N., et al. Variation in clinical severity among patients with Hb Lepore-Boston-β-thalassaemia is related to the type of β-thalassaemia. Br. J. Haematol. 68 (1988) 351-355
    • (1988) Br. J. Haematol. , vol.68 , pp. 351-355
    • Efremov, D.G.1    Efremov, G.D.2    Zisovski, N.3
  • 87
    • 0019401120 scopus 로고
    • Localization of the site of recombination in formation of the Lepore Boston globin gene
    • Baird M., Schreiner H., Driscoll C., and Bank A. Localization of the site of recombination in formation of the Lepore Boston globin gene. J. Clin. Invest. 68 (1981) 560-564
    • (1981) J. Clin. Invest. , vol.68 , pp. 560-564
    • Baird, M.1    Schreiner, H.2    Driscoll, C.3    Bank, A.4
  • 88
    • 0014570210 scopus 로고
    • Hemoglobin Lepore Baltimore,a third type of a δβ crossover (δ50/β86)
    • Ostertag W., and Smith E.W. Hemoglobin Lepore Baltimore,a third type of a δβ crossover (δ50/β86). Eur. J. Biochem. 10 (1969) 371-376
    • (1969) Eur. J. Biochem. , vol.10 , pp. 371-376
    • Ostertag, W.1    Smith, E.W.2
  • 89
    • 0001052681 scopus 로고
    • Hemoglobin Lepore Hollandia
    • Barnabas J., and Muller C.J. Hemoglobin Lepore Hollandia. Nature 194 (1962) 931-932
    • (1962) Nature , vol.194 , pp. 931-932
    • Barnabas, J.1    Muller, C.J.2
  • 92
    • 0242522857 scopus 로고    scopus 로고
    • Molecular and hematologic features of hemoglobin E heterozygotes with different forms of alpha-thalassemia in Thailand
    • Sanchaisuriya K., Fucharoen G., Sae-ung N., Jetsrisuparb A., and Fucharoen S. Molecular and hematologic features of hemoglobin E heterozygotes with different forms of alpha-thalassemia in Thailand. Ann. Hematol. 82 (2003) 612-616
    • (2003) Ann. Hematol. , vol.82 , pp. 612-616
    • Sanchaisuriya, K.1    Fucharoen, G.2    Sae-ung, N.3    Jetsrisuparb, A.4    Fucharoen, S.5
  • 93
    • 0033953189 scopus 로고    scopus 로고
    • Clinical and hematologic aspects of hemoglobin E beta-thalassemia
    • Fucharoen S., and Winichagoon P. Clinical and hematologic aspects of hemoglobin E beta-thalassemia. Curr. Opin. Hematol. 7 (2000) 106-112
    • (2000) Curr. Opin. Hematol. , vol.7 , pp. 106-112
    • Fucharoen, S.1    Winichagoon, P.2
  • 94
    • 57949106014 scopus 로고    scopus 로고
    • Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand
    • Nuntakarn L., Fucharoen S., Fucharoen G., Sanchaisuriya K., Jetsrisuparb A., and Wiangnon S. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells Mol. Dis. 42 (2009) 32-35
    • (2009) Blood Cells Mol. Dis. , vol.42 , pp. 32-35
    • Nuntakarn, L.1    Fucharoen, S.2    Fucharoen, G.3    Sanchaisuriya, K.4    Jetsrisuparb, A.5    Wiangnon, S.6
  • 95
    • 0034119626 scopus 로고    scopus 로고
    • Differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia by protein and DNA analyses
    • Wong S.C., Aw T.C., Suri R., Wong C.K., Plaseska D., and Efremov G.D. Differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia by protein and DNA analyses. Acta Haematol. 103 (2000) 84-89
    • (2000) Acta Haematol. , vol.103 , pp. 84-89
    • Wong, S.C.1    Aw, T.C.2    Suri, R.3    Wong, C.K.4    Plaseska, D.5    Efremov, G.D.6
  • 96
    • 45849103898 scopus 로고    scopus 로고
    • Hb Jeddah [alpha68(E17)Asn-->His (alpha1)]: a newly recognized alpha chain variant, seen in combination with Hb S [beta6(A3)Glu-->Val], and found in three separate families of middle eastern origin
    • Markley K.M., Elkhalifa M., Maini A., and Hoyer J.D. Hb Jeddah [alpha68(E17)Asn-->His (alpha1)]: a newly recognized alpha chain variant, seen in combination with Hb S [beta6(A3)Glu-->Val], and found in three separate families of middle eastern origin. Hemoglobin 32 (2008) 297-302
    • (2008) Hemoglobin , vol.32 , pp. 297-302
    • Markley, K.M.1    Elkhalifa, M.2    Maini, A.3    Hoyer, J.D.4
  • 97
    • 0015880330 scopus 로고
    • Two variants of hemoglobin D in the Algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln
    • Elion J., Belkhodja O., Wajcman H., and Labie D. Two variants of hemoglobin D in the Algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln. Biochim. Biophys. Acta 310 (1973) 360-364
    • (1973) Biochim. Biophys. Acta , vol.310 , pp. 360-364
    • Elion, J.1    Belkhodja, O.2    Wajcman, H.3    Labie, D.4
  • 98
    • 0017732636 scopus 로고
    • Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity
    • Braconnier F., Gacon G., Thillet J., et al. Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity. Biochim. Biophys. Acta 493 1 (1977) 228-233
    • (1977) Biochim. Biophys. Acta , vol.493 , Issue.1 , pp. 228-233
    • Braconnier, F.1    Gacon, G.2    Thillet, J.3
  • 99
    • 33845474518 scopus 로고    scopus 로고
    • A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia
    • So C.C., Chan A.Y., Tsang S.T., et al. A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia. Br. J. Haematol. 136 (2007) 158-162
    • (2007) Br. J. Haematol. , vol.136 , pp. 158-162
    • So, C.C.1    Chan, A.Y.2    Tsang, S.T.3
  • 101
    • 0023713377 scopus 로고
    • Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion
    • Anand R., Boehm C.D., Kazazian Jr. H.H., and Vanin E.F. Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion. Blood 72 (1988) 636-641
    • (1988) Blood , vol.72 , pp. 636-641
    • Anand, R.1    Boehm, C.D.2    Kazazian Jr., H.H.3    Vanin, E.F.4
  • 102
    • 0024356241 scopus 로고
    • Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene
    • Gonzalez-Redondo J.M., Kattamis C., and Huisman T.H. Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene. Hemoglobin 13 (1989) 377-392
    • (1989) Hemoglobin , vol.13 , pp. 377-392
    • Gonzalez-Redondo, J.M.1    Kattamis, C.2    Huisman, T.H.3
  • 103
    • 0021172214 scopus 로고
    • Partial deletion of the 5′ β-globin gene region causes β-thalassemia in members of an American black family
    • Padanilam B.J., Felice A.E., and Huisman T.H.J. Partial deletion of the 5′ β-globin gene region causes β-thalassemia in members of an American black family. Blood 64 (1984) 941-944
    • (1984) Blood , vol.64 , pp. 941-944
    • Padanilam, B.J.1    Felice, A.E.2    Huisman, T.H.J.3
  • 104
    • 0022897892 scopus 로고
    • Molecular characterization of an atypical β-thalassemia caused by a large deletion in the 5′ β-globin gene region
    • Popovich B.W., Rosenblatt D.S., Kendall A.G., and Nishioka Y. Molecular characterization of an atypical β-thalassemia caused by a large deletion in the 5′ β-globin gene region. Am. J. Hum. Genet. 39 (1986) 797-810
    • (1986) Am. J. Hum. Genet. , vol.39 , pp. 797-810
    • Popovich, B.W.1    Rosenblatt, D.S.2    Kendall, A.G.3    Nishioka, Y.4
  • 105
    • 0025924718 scopus 로고
    • 2 beta 0-thalassemia due to a 532-basepair deletion of the 5′ beta-globin gene region
    • 2 beta 0-thalassemia due to a 532-basepair deletion of the 5′ beta-globin gene region. Blood 77 (1991) 1100-1103
    • (1991) Blood , vol.77 , pp. 1100-1103
    • Waye, J.S.1    Cai, S.P.2    Eng, B.3
  • 107
    • 0000053102 scopus 로고    scopus 로고
    • Hereditary persistence of fetal hemoglobin and delta beta thalassemia
    • Steiberg M.H., Forget B.G., and Higg D.R. (Eds), Cambridge University Press, Cambridge, UK
    • Wood W.G. Hereditary persistence of fetal hemoglobin and delta beta thalassemia. In: Steiberg M.H., Forget B.G., and Higg D.R. (Eds). Disorders of hemoglobin: genetics, pathophysiology and clinical management (2001), Cambridge University Press, Cambridge, UK 356-388
    • (2001) Disorders of hemoglobin: genetics, pathophysiology and clinical management , pp. 356-388
    • Wood, W.G.1
  • 108
    • 0031871713 scopus 로고    scopus 로고
    • Molecular basis of hereditary persistence of fetal hemoglobin
    • Forget B.G. Molecular basis of hereditary persistence of fetal hemoglobin. Ann. N. Y. Acad. Sci. 850 (1998) 38-44
    • (1998) Ann. N. Y. Acad. Sci. , vol.850 , pp. 38-44
    • Forget, B.G.1
  • 109
    • 0025905754 scopus 로고
    • Delta beta thalassemia and hereditary persistence of fetal hemoglobin
    • Bollekens J.A., and Forget B.G. Delta beta thalassemia and hereditary persistence of fetal hemoglobin. Hematol. Oncol. Clin. North Am. 5 (1991) 399-422
    • (1991) Hematol. Oncol. Clin. North Am. , vol.5 , pp. 399-422
    • Bollekens, J.A.1    Forget, B.G.2
  • 110
    • 0030910834 scopus 로고    scopus 로고
    • Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin
    • Craig J.E., Rochette J., Sampietro M., et al. Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. Blood 90 (1997) 428-434
    • (1997) Blood , vol.90 , pp. 428-434
    • Craig, J.E.1    Rochette, J.2    Sampietro, M.3
  • 111
    • 55849137633 scopus 로고    scopus 로고
    • Usefulness of red blood cell flags in diagnosing and differentiating thalassemia trait from iron-deficiency anemia
    • Eivazi-Ziaei J., Dastgiri S., Pourebrahim S., and Soltanpour R. Usefulness of red blood cell flags in diagnosing and differentiating thalassemia trait from iron-deficiency anemia. Hematology 13 (2008) 253-256
    • (2008) Hematology , vol.13 , pp. 253-256
    • Eivazi-Ziaei, J.1    Dastgiri, S.2    Pourebrahim, S.3    Soltanpour, R.4
  • 112
    • 0036434470 scopus 로고    scopus 로고
    • Most reliable indices in differentiation between thalassemia trait and iron deficiency anemia
    • Demir A., Yarali N., Fisgin T., Duru F., and Kara A. Most reliable indices in differentiation between thalassemia trait and iron deficiency anemia. Pediatr. Int. 44 (2002) 612-616
    • (2002) Pediatr. Int. , vol.44 , pp. 612-616
    • Demir, A.1    Yarali, N.2    Fisgin, T.3    Duru, F.4    Kara, A.5
  • 113
    • 64149091382 scopus 로고    scopus 로고
    • Red cell indices and functions differentiating patients with the beta-thalassaemia trait from those with iron deficiency anaemia
    • Okan V., Cigiloglu A., Cifci S., Yilmaz M., and Pehlivan M. Red cell indices and functions differentiating patients with the beta-thalassaemia trait from those with iron deficiency anaemia. J. Int. Med. Res. 37 (2009) 25-30
    • (2009) J. Int. Med. Res. , vol.37 , pp. 25-30
    • Okan, V.1    Cigiloglu, A.2    Cifci, S.3    Yilmaz, M.4    Pehlivan, M.5
  • 114
    • 0025910906 scopus 로고
    • Relevance of red cell distribution width (RDW) in the differential diagnosis of microcytic anaemias
    • Cesana B.M., Maiolo A.T., Gidiuli R., Damilano I., Massaro P., and Polli E.E. Relevance of red cell distribution width (RDW) in the differential diagnosis of microcytic anaemias. Clin. Lab. Haematol. 13 (1991) 141-151
    • (1991) Clin. Lab. Haematol. , vol.13 , pp. 141-151
    • Cesana, B.M.1    Maiolo, A.T.2    Gidiuli, R.3    Damilano, I.4    Massaro, P.5    Polli, E.E.6
  • 115
    • 64249163729 scopus 로고    scopus 로고
    • Red cell distribution width (RDW) in the diagnosis of iron deficiency with microcytic hypochromic anemia
    • Aulakh R., Sohi I., Singh T., and Kakkar N. Red cell distribution width (RDW) in the diagnosis of iron deficiency with microcytic hypochromic anemia. Indian J. Pediatr. 76 (2009) 265-268
    • (2009) Indian J. Pediatr. , vol.76 , pp. 265-268
    • Aulakh, R.1    Sohi, I.2    Singh, T.3    Kakkar, N.4
  • 117
    • 0036400995 scopus 로고    scopus 로고
    • The effect of iron deficiency anaemia on the levels of haemoglobin subtypes: possible consequences for clinical diagnosis
    • El-Agouza I., Abu Shahla A., and Sirdah M. The effect of iron deficiency anaemia on the levels of haemoglobin subtypes: possible consequences for clinical diagnosis. Clin. Lab. Haematol. 24 (2002) 285-289
    • (2002) Clin. Lab. Haematol. , vol.24 , pp. 285-289
    • El-Agouza, I.1    Abu Shahla, A.2    Sirdah, M.3
  • 120
    • 0025349984 scopus 로고
    • Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints
    • Henthorn P.S., Smithies O., and Mager D.L. Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints. Genomics 6 (1990) 226-237
    • (1990) Genomics , vol.6 , pp. 226-237
    • Henthorn, P.S.1    Smithies, O.2    Mager, D.L.3
  • 121
    • 0027398530 scopus 로고
    • Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction
    • Craig J.E., Barnetson R., Weatherall D.J., and Thein S.L. Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction. Blood 8 (1993) 861-863
    • (1993) Blood , vol.8 , pp. 861-863
    • Craig, J.E.1    Barnetson, R.2    Weatherall, D.J.3    Thein, S.L.4
  • 123
    • 0033792461 scopus 로고    scopus 로고
    • Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel
    • Oron-Karni V., Filon D., Shifrin Y., et al. Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel. Am. J. Hematol. 65 (2000) 196-203
    • (2000) Am. J. Hematol. , vol.65 , pp. 196-203
    • Oron-Karni, V.1    Filon, D.2    Shifrin, Y.3
  • 124
    • 0031724047 scopus 로고    scopus 로고
    • Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia
    • Galanello R., Sollaino C., Paglietti E., et al. Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia. Am. J. Hematol. 59 (1998) 273-278
    • (1998) Am. J. Hematol. , vol.59 , pp. 273-278
    • Galanello, R.1    Sollaino, C.2    Paglietti, E.3
  • 125
    • 32544432388 scopus 로고    scopus 로고
    • Known and new delta globin gene mutations and their diagnostic significance
    • Bouva M.J., Harteveld C.L., van Delft P., and Giordano P.C. Known and new delta globin gene mutations and their diagnostic significance. Haematologica 91 (2006) 129-132
    • (2006) Haematologica , vol.91 , pp. 129-132
    • Bouva, M.J.1    Harteveld, C.L.2    van Delft, P.3    Giordano, P.C.4
  • 126
    • 35048844162 scopus 로고    scopus 로고
    • Mutational spectrum of delta-globin gene in the Portuguese population
    • Morgado A., Picanço I., Gomes S., et al. Mutational spectrum of delta-globin gene in the Portuguese population. Eur. J. Haematol. 79 (2007) 422-428
    • (2007) Eur. J. Haematol. , vol.79 , pp. 422-428
    • Morgado, A.1    Picanço, I.2    Gomes, S.3
  • 127
    • 33845924722 scopus 로고    scopus 로고
    • Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations
    • Giambona A., Passarello C., Ruggeri G., et al. Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica 91 (2006) 1681-1684
    • (2006) Haematologica , vol.91 , pp. 1681-1684
    • Giambona, A.1    Passarello, C.2    Ruggeri, G.3
  • 129
    • 50849139553 scopus 로고    scopus 로고
    • 2 values in an Italian population with a high prevalence of beta-thalassemia
    • 2 values in an Italian population with a high prevalence of beta-thalassemia. Haematol 93 (2008) 1380-1384
    • (2008) Haematol , vol.93 , pp. 1380-1384
    • Giambona, A.1    Passarello, C.2    Vinciguerra, M.3
  • 130
    • 0027524125 scopus 로고
    • Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations
    • Tamagnini G.P., Gonçalves P., Ribeiro M.L., et al. Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations. Hemoglobin 17 (1993) 31-40
    • (1993) Hemoglobin , vol.17 , pp. 31-40
    • Tamagnini, G.P.1    Gonçalves, P.2    Ribeiro, M.L.3
  • 131
    • 0028291289 scopus 로고
    • Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation
    • Efremov D.G., Dimovski A.J., Baysal E., et al. Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation. Br. J. Haematol. 86 4 (1994) 824-830
    • (1994) Br. J. Haematol. , vol.86 , Issue.4 , pp. 824-830
    • Efremov, D.G.1    Dimovski, A.J.2    Baysal, E.3
  • 132
    • 0019622712 scopus 로고
    • Beta zero thalassemia in Sardinia is caused by a nonsense mutation
    • Trecartin R.F., Liebhaber S.A., Chang J.C., et al. Beta zero thalassemia in Sardinia is caused by a nonsense mutation. J. Clin. Invest. 68 (1981) 1012-1017
    • (1981) J. Clin. Invest. , vol.68 , pp. 1012-1017
    • Trecartin, R.F.1    Liebhaber, S.A.2    Chang, J.C.3
  • 133
    • 0005188076 scopus 로고
    • Base substitution in an intervening sequence of a beta+ thalassemic human globin gene
    • Spritz R.A., Jagadeeswaran P., Choudary P.V., et al. Base substitution in an intervening sequence of a beta+ thalassemic human globin gene. Proc. Natl. Acad. Sci. U. S. A. 78 (1981) 2455-2459
    • (1981) Proc. Natl. Acad. Sci. U. S. A. , vol.78 , pp. 2455-2459
    • Spritz, R.A.1    Jagadeeswaran, P.2    Choudary, P.V.3
  • 134
    • 0019949838 scopus 로고
    • Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster
    • Orkin S.H., Kazazian Jr. H.H., Antonarakis S.E., et al. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296 (1982) 627-631
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3
  • 135
    • 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 K.E., Kanavakis E., Traeger-Synodinos J., 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 107 (1999) 699-706
    • (1999) Am. J. Hematol , vol.107 , pp. 699-706
    • Maragoudaki, K.E.1    Kanavakis, E.2    Traeger-Synodinos, J.3
  • 138
    • 0028279382 scopus 로고
    • 2 levels: implication for β-thalassemia carrier screening
    • 2 levels: implication for β-thalassemia carrier screening. Am. J. Hematol. 46 (1994) 79-81
    • (1994) Am. J. Hematol. , vol.46 , pp. 79-81
    • Galanello, R.1    Barella, S.2    Ideo, A.3
  • 140
    • 0025762744 scopus 로고
    • The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population
    • Kutlar F., Felice A.E., Grech J.L., et al. The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population. Hum. Genet. 86 (1991) 591-594
    • (1991) Hum. Genet. , vol.86 , pp. 591-594
    • Kutlar, F.1    Felice, A.E.2    Grech, J.L.3
  • 141
    • 0021237924 scopus 로고
    • A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly>Ser
    • Rahbar S., Asmerom Y., and Blume K.G. A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly>Ser. Hemoglobin 8 (1984) 333-342
    • (1984) Hemoglobin , vol.8 , pp. 333-342
    • Rahbar, S.1    Asmerom, Y.2    Blume, K.G.3
  • 142
    • 70449727422 scopus 로고    scopus 로고
    • Personal communication
    • Gallivan M. Personal communication 2005.
    • (2005)
    • Gallivan, M.1
  • 143
    • 33745529208 scopus 로고    scopus 로고
    • Hb Marineo [beta70(E14)Ala>Val]: a silent hemoglobin variant with a mutation within the heme pocket
    • Giambona A., Vinciguerra M., Cassarà F., et al. Hb Marineo [beta70(E14)Ala>Val]: a silent hemoglobin variant with a mutation within the heme pocket. Hemoglobin 30 (2006) 139-148
    • (2006) Hemoglobin , vol.30 , pp. 139-148
    • Giambona, A.1    Vinciguerra, M.2    Cassarà, F.3
  • 144
    • 0032712115 scopus 로고    scopus 로고
    • Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala > Thr]
    • Papassotiriou I., Traeger-Synodinos J., Promé D., et al. Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala > Thr]. Am. J. Hematol. 62 (1999) 186-192
    • (1999) Am. J. Hematol. , vol.62 , pp. 186-192
    • Papassotiriou, I.1    Traeger-Synodinos, J.2    Promé, D.3
  • 145
    • 18644385340 scopus 로고    scopus 로고
    • Hb Groene Hart. A new Pro>Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype
    • Harteveld C.L., van Delft P., Plug R., et al. Hb Groene Hart. A new Pro>Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. Hemoglobin 26 (2002) 255-260
    • (2002) Hemoglobin , vol.26 , pp. 255-260
    • Harteveld, C.L.1    van Delft, P.2    Plug, R.3
  • 146
    • 0033626005 scopus 로고    scopus 로고
    • Hb Ernz [beta123(H1)Thr>Asn] and Hb Renert [beta133(H11)Val>Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis
    • Groff P., Kalmes G., Golinska B., et al. Hb Ernz [beta123(H1)Thr>Asn] and Hb Renert [beta133(H11)Val>Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis. Hemoglobin 24 (2000) 287-297
    • (2000) Hemoglobin , vol.24 , pp. 287-297
    • Groff, P.1    Kalmes, G.2    Golinska, B.3
  • 147
    • 0022878067 scopus 로고
    • Hemoglobin Beirut [alpha 2 beta 2(126)(H4)Val>Ala] in an Algerian family
    • Blibech R., Mrad H., Kastally R., et al. Hemoglobin Beirut [alpha 2 beta 2(126)(H4)Val>Ala] in an Algerian family. Hemoglobin 10 (1986) 651-654
    • (1986) Hemoglobin , vol.10 , pp. 651-654
    • Blibech, R.1    Mrad, H.2    Kastally, R.3
  • 148
    • 0031135617 scopus 로고    scopus 로고
    • Silent thalassemias: genotypes and phenotypes
    • Bianco I., Cappabianca M.P., Foglietta E., et al. Silent thalassemias: genotypes and phenotypes. Haematologica 82 (1997) 257-258
    • (1997) Haematologica , vol.82 , pp. 257-258
    • Bianco, I.1    Cappabianca, M.P.2    Foglietta, E.3
  • 149
    • 36749039688 scopus 로고    scopus 로고
    • A novel mutation of the beta-globin gene promoter (- 102 C>A) and pitfalls in family screening
    • 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. 82 (2007) 1088-1090
    • (2007) Am. J. Hematol. , vol.82 , pp. 1088-1090
    • Aguilar-Martinez, P.1    Jourdan, E.2    Brun, S.3
  • 150
    • 4644224565 scopus 로고    scopus 로고
    • A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF
    • Moi P., Faà V., Marini M.G., et al. A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. Br. J. Haematol. 126 (2004) 881-884
    • (2004) Br. J. Haematol. , vol.126 , pp. 881-884
    • Moi, P.1    Faà, V.2    Marini, M.G.3
  • 151
    • 0023601968 scopus 로고
    • Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
    • Wong C., Dowling C.E., Saiki R.K., Higuchi R.G., Erlich H.A., and Kazazian Jr. H.H. Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 330 (1987) 384-386
    • (1987) Nature , vol.330 , pp. 384-386
    • Wong, C.1    Dowling, C.E.2    Saiki, R.K.3    Higuchi, R.G.4    Erlich, H.A.5    Kazazian Jr., H.H.6
  • 152
    • 35048865291 scopus 로고    scopus 로고
    • The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians
    • Garewal G., Das R., Awasthi A., Ahluwalia J., and Marwaha R.K. The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians. Eur. J. Haematol. 79 (2007) 417-421
    • (2007) Eur. J. Haematol. , vol.79 , pp. 417-421
    • Garewal, G.1    Das, R.2    Awasthi, A.3    Ahluwalia, J.4    Marwaha, R.K.5
  • 153
    • 0030023834 scopus 로고    scopus 로고
    • Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families
    • Ho P.J., Rochette J., Fisher C.A., et al. Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families. Blood 871 (1996) 1170-1178
    • (1996) Blood , vol.871 , pp. 1170-1178
    • Ho, P.J.1    Rochette, J.2    Fisher, C.A.3
  • 154
    • 0034170499 scopus 로고    scopus 로고
    • β-thalassemia intermedia resulting from compound heterozygosity for an IVSI-1 (G-A) and a silent 5′ UTR + 33 (C-G) mutations
    • Bento M.C., Ribeiro M.L., Cunha E., Gonçalves P., Martin-Nuñez G., and Tamagnini G. β-thalassemia intermedia resulting from compound heterozygosity for an IVSI-1 (G-A) and a silent 5′ UTR + 33 (C-G) mutations. Haematologica 85 (2000) 443-444
    • (2000) Haematologica , vol.85 , pp. 443-444
    • Bento, M.C.1    Ribeiro, M.L.2    Cunha, E.3    Gonçalves, P.4    Martin-Nuñez, G.5    Tamagnini, G.6
  • 155
    • 0025762515 scopus 로고    scopus 로고
    • Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations
    • Murru S., Loudianos G., Deiana M., et al. Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. Blood 77 (1996) 1342-1347
    • (1996) Blood , vol.77 , pp. 1342-1347
    • Murru, S.1    Loudianos, G.2    Deiana, M.3
  • 156
    • 0031706074 scopus 로고    scopus 로고
    • Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3′ to the termination codon (+ 1480 C-->G) in twelve Greek families
    • Maragoudaki E., Vrettou C., Kanavakis E., Traeger-Synodinos J., Metaxotou-Mavrommati A., and Kattamis C. Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3′ to the termination codon (+ 1480 C-->G) in twelve Greek families. Br. J. Haematol. 103 (1998) 45-51
    • (1998) Br. J. Haematol. , vol.103 , pp. 45-51
    • Maragoudaki, E.1    Vrettou, C.2    Kanavakis, E.3    Traeger-Synodinos, J.4    Metaxotou-Mavrommati, A.5    Kattamis, C.6
  • 160
    • 67449096515 scopus 로고    scopus 로고
    • 2 values in an HIV-1-infected patient receiving antiretroviral drugs: a pitfall for thalassemia antenatal diagnosis
    • 2 values in an HIV-1-infected patient receiving antiretroviral drugs: a pitfall for thalassemia antenatal diagnosis. Hemoglobin 33 (2009) 158-161
    • (2009) Hemoglobin , vol.33 , pp. 158-161
    • Pornprasert, S.1    Sukunthamala, K.2    Leechanachai, P.3    Sanguansermsri, T.4
  • 162
    • 0020642809 scopus 로고
    • 2 in nutritional megaloblastic anaemia
    • 2 in nutritional megaloblastic anaemia. J. Med. Res. 77 (1983) 478-481
    • (1983) J. Med. Res. , vol.77 , pp. 478-481
    • Metha, B.C.1    Agarwal, M.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.