-
1
-
-
0034889014
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
16
-
-
0027448404
-
An initiation codon mutation as a cause of β-thalassemia in a Belgian family
-
Wildmann C., Larondelle Y., Vaerman J.L., Eeckels R., Martiat P., and Philippe M. An initiation codon mutation as a cause of β-thalassemia in a Belgian family. Hemoglobin 17 (1993) 19-30
-
(1993)
Hemoglobin
, vol.17
, pp. 19-30
-
-
Wildmann, C.1
Larondelle, Y.2
Vaerman, J.L.3
Eeckels, R.4
Martiat, P.5
Philippe, M.6
-
17
-
-
33644701423
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
28
-
-
0029021881
-
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
-
32
-
-
27644467092
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
70
-
-
0037003396
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
90
-
-
0031824755
-
The hemoglobin E syndromes
-
Rees D.C., Styles L., Vichinsky E.P., Clegg J.B., and Weatherall D.J. The hemoglobin E syndromes. Ann. N. Y. Acad. Sci. 850 (1998) 334-343
-
(1998)
Ann. N. Y. Acad. Sci.
, vol.850
, pp. 334-343
-
-
Rees, D.C.1
Styles, L.2
Vichinsky, E.P.3
Clegg, J.B.4
Weatherall, D.J.5
-
91
-
-
63149196759
-
Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk
-
Tachavanich K., Viprakasit V., Chinchang W., Glomglao W., Pung-Amritt P., and Tanphaichitr V.S. Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk. Southeast Asian J. Trop. Med. Public Health 40 (2009) 306-316
-
(2009)
Southeast Asian J. Trop. Med. Public Health
, vol.40
, pp. 306-316
-
-
Tachavanich, K.1
Viprakasit, V.2
Chinchang, W.3
Glomglao, W.4
Pung-Amritt, P.5
Tanphaichitr, V.S.6
-
92
-
-
0242522857
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
136
-
-
0027474960
-
mild type of Hb S-beta(+)-thalassemia [- 92(C-->T)] in a Sicilian family
-
Divoky V., Baysal E., Schiliro G., Di Benedetto S.P., and Huisman T.H.A. mild type of Hb S-beta(+)-thalassemia [- 92(C-->T)] in a Sicilian family. Am. J. Hematol 2 (1993) 225-226
-
(1993)
Am. J. Hematol
, vol.2
, pp. 225-226
-
-
Divoky, V.1
Baysal, E.2
Schiliro, G.3
Di Benedetto, S.P.4
Huisman, T.H.A.5
-
140
-
-
0025762744
-
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
-
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
-
-
Personal communication
-
Gallivan M. Personal communication 2005.
-
(2005)
-
-
Gallivan, M.1
-
143
-
-
33745529208
-
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
-
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
-
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
-
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
-
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
-
149
-
-
36749039688
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
162
-
-
0020642809
-
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
|