메뉴 건너뛰기




Volumn 340, Issue 1-2, 2004, Pages 127-137

Clinical and molecular aspects of haemoglobinopathies in Tunisia

Author keywords

Haemoglobin; Haplotypes; Prenatal diagnosis; Sickle cell disease; Thalassaemias

Indexed keywords

ALPHA THALASSEMIA; AMPLIFICATION REFRACTORY MUTATION SYSTEM; ARTICLE; BETA THALASSEMIA; CHROMOSOME ABERRATION; CLINICAL PRACTICE; DENATURING GRADIENT GEL ELECTROPHORESIS; FEASIBILITY STUDY; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HEALTH PROGRAM; HUMAN; HUMAN CELL; HUMAN TISSUE; INCIDENCE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PREVENTIVE MEDICINE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SICKLE CELL ANEMIA; TUNISIA;

EID: 0842281427     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2003.10.022     Document Type: Article
Times cited : (26)

References (58)
  • 1
    • 0004198466 scopus 로고
    • The Thalassemia Syndromes
    • Oxford: Blackwell
    • Weatherall D.J., Clegg J.B. The Thalassemia Syndromes. 3rd ed. 1981;Blackwell, Oxford.
    • (1981) 3rd Ed.
    • Weatherall, D.J.1    Clegg, J.B.2
  • 2
    • 0022886564 scopus 로고
    • High frequencies of thalassemia are the result of natural selection by malaria
    • Flint J., Hill A.V.S., Bowden D.K., Oppenheimer S.J. High frequencies of thalassemia are the result of natural selection by malaria. Nature. 321:1986;744-750.
    • (1986) Nature , vol.321 , pp. 744-750
    • Flint, J.1    Hill, A.V.S.2    Bowden, D.K.3    Oppenheimer, S.J.4
  • 3
    • 85030902981 scopus 로고
    • Les groupes sanguins d'une tribu berbère tunisienne, les Douiret
    • Caillon L., Disdier C. Les groupes sanguins d'une tribu berbère tunisienne, les Douiret. Arch. Inst. Pasteur Tunis. 19:1930;50.
    • (1930) Arch. Inst. Pasteur Tunis , vol.19 , pp. 50
    • Caillon, L.1    Disdier, C.2
  • 6
    • 0020454947 scopus 로고
    • Inherited deletion of immunoglobulin heavy-chain constant region genes in normal individuals
    • Lefranc M.P., Lefranc G., Rabbits T.H. Inherited deletion of immunoglobulin heavy-chain constant region genes in normal individuals. Nature. 300:1982;760-762.
    • (1982) Nature , vol.300 , pp. 760-762
    • Lefranc, M.P.1    Lefranc, G.2    Rabbits, T.H.3
  • 8
    • 0020972375 scopus 로고
    • HLA A*, B*-BF* and C4 A*, B* allele associations, with special reference to BF*S07, in the Tunisian population
    • Helal A., Lefranc G., Hauptmann G., Goet J., Tongio M.M., Davrinche C.et al. HLA A*, B*-BF* and C4 A*, B* allele associations, with special reference to BF*S07, in the Tunisian population. J. Immunogenet. 10:1983;205-208.
    • (1983) J. Immunogenet. , vol.10 , pp. 205-208
    • Helal, A.1    Lefranc, G.2    Hauptmann, G.3    Goet, J.4    Tongio, M.M.5    Davrinche, C.6
  • 9
    • 0022509529 scopus 로고
    • Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians
    • Chaabani H., Bech-Hansen N., Cox W. Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians. Hum. Genet. 73:1986;110-113.
    • (1986) Hum. Genet. , vol.73 , pp. 110-113
    • Chaabani, H.1    Bech-Hansen, N.2    Cox, W.3
  • 10
    • 0022340924 scopus 로고
    • Serum protein polymorphism among Tunisian Berbers: Haptoglobin, transferrin and group-specific component subtypes, C3 and BF types
    • Chibani J., Lefranc G., Constans J. Serum protein polymorphism among Tunisian Berbers: haptoglobin, transferrin and group-specific component subtypes, C3 and BF types. Ann. Human Biol. 12:1985;449-462.
    • (1985) Ann. Human Biol. , vol.12 , pp. 449-462
    • Chibani, J.1    Lefranc, G.2    Constans, J.3
  • 11
    • 0024624615 scopus 로고
    • Consanguinité dans la population du Nord de la Tunisie
    • [nr 3]
    • Riou S.et al. Consanguinité dans la population du Nord de la Tunisie. Tunis. Med. 67:1989;. [nr 3].
    • (1989) Tunis. Med. , vol.67
    • Riou, S.1
  • 12
    • 0842342110 scopus 로고
    • Les syndromes hématologiques méditerranéens chez l'indigène musulman algérien
    • Portier A., Cabannes R., Massonat J., Zevaco P. Les syndromes hématologiques méditerranéens chez l'indigène musulman algérien. Ann. Med. 52:1951;608-644.
    • (1951) Ann. Med. , vol.52 , pp. 608-644
    • Portier, A.1    Cabannes, R.2    Massonat, J.3    Zevaco, P.4
  • 13
    • 77951312862 scopus 로고
    • Enquête sur la thalassémie en Afrique du Nord
    • Portier A., Massonat J., Zevaco P. Enquête sur la thalassémie en Afrique du Nord. Alger. Med. 1:1952;23-29.
    • (1952) Alger. Med. , vol.1 , pp. 23-29
    • Portier, A.1    Massonat, J.2    Zevaco, P.3
  • 14
    • 0842320497 scopus 로고
    • Enquête systématique sur les drépanocytoses chez l'indigène musulman algérien
    • Portier A., Massonat J., Thiebaut R. Enquête systématique sur les drépanocytoses chez l'indigène musulman algérien. Alger. Med. 58:1954;185-191.
    • (1954) Alger. Med. , vol.58 , pp. 185-191
    • Portier, A.1    Massonat, J.2    Thiebaut, R.3
  • 16
    • 0022416140 scopus 로고
    • Some data on the epidemiology of hemoglobinopathies in Tunisia
    • Fattoum S., Abbes S. Some data on the epidemiology of hemoglobinopathies in Tunisia. Hemoglobin. 9:1985;423-429.
    • (1985) Hemoglobin , vol.9 , pp. 423-429
    • Fattoum, S.1    Abbes, S.2
  • 17
    • 0022522466 scopus 로고
    • Hémoglobinopathies en Tunisie Centrale: Les premiers pas du conseil génétique
    • Chibani J., Gritli E., Khelif A., Ben Ahmed S. Hémoglobinopathies en Tunisie Centrale: les premiers pas du conseil génétique. Nouv. Rev. Fr. Hematol. 28:1986;231-233.
    • (1986) Nouv. Rev. Fr. Hematol. , vol.28 , pp. 231-233
    • Chibani, J.1    Gritli, E.2    Khelif, A.3    Ben Ahmed, S.4
  • 19
    • 0025805101 scopus 로고
    • β-Thalassemia, HbS-β-thalassemia and sickle cell anemia among Tunisians
    • Fattoum S., Guemira F., Öner C., Öner R., Li H.W., Kutlar F.et al. β-Thalassemia, HbS-β-thalassemia and sickle cell anemia among Tunisians. Hemoglobin. 15:1991;11-21.
    • (1991) Hemoglobin , vol.15 , pp. 11-21
    • Fattoum, S.1    Guemira, F.2    Öner, C.3    Öner, R.4    Li, H.W.5    Kutlar, F.6
  • 20
    • 0025753747 scopus 로고
    • Sickle cell anemia in the Tunisian population: Haplotyping and HbF expression
    • Abbes S., Fattoum S., Vidaud M., Goossens M., Rosa J. Sickle cell anemia in the Tunisian population: haplotyping and HbF expression. Hemoglobin. 15:1991;1-9.
    • (1991) Hemoglobin , vol.15 , pp. 1-9
    • Abbes, S.1    Fattoum, S.2    Vidaud, M.3    Goossens, M.4    Rosa, J.5
  • 21
    • 0022522467 scopus 로고
    • L'alpha-thalassémie en Tunisie: Bases moléculaires de l'hémoglobinose H
    • Abbes S., Vidaud M., Fattoum S., Goossens M. L'alpha-thalassémie en Tunisie: bases moléculaires de l'hémoglobinose H. Nouv. Rev. Fr. Hematol. 28:1986;243-244.
    • (1986) Nouv. Rev. Fr. Hematol. , vol.28 , pp. 243-244
    • Abbes, S.1    Vidaud, M.2    Fattoum, S.3    Goossens, M.4
  • 23
    • 0013827506 scopus 로고
    • Rapid qualitative and quantitative hemoglobin fraction on cellulose acetate electrophoresis
    • Brière R.E., Gollast T., Batsakis J.G. Rapid qualitative and quantitative hemoglobin fraction on cellulose acetate electrophoresis. Am. J. Clin. Pathol. 44:1965;695-701.
    • (1965) Am. J. Clin. Pathol. , vol.44 , pp. 695-701
    • Brière, R.E.1    Gollast, T.2    Batsakis, J.G.3
  • 24
    • 0018179793 scopus 로고
    • Isoelectric focusing of human hemoglobins: Its application to screening, to the characterization of 70 variants and to the study of modified fractions of normal hemoglobin
    • Basset P., Beuzard Y., Garel M.C., Rosa J. Isoelectric focusing of human hemoglobins: its application to screening, to the characterization of 70 variants and to the study of modified fractions of normal hemoglobin. Blood. 51:1978;971-975.
    • (1978) Blood , vol.51 , pp. 971-975
    • Basset, P.1    Beuzard, Y.2    Garel, M.C.3    Rosa, J.4
  • 25
    • 0016594105 scopus 로고
    • Microchromatography of hemoglobins: II. a simplified procedure for the determination of hemoglobin A2
    • Huisman T.H.J., Schroeder W.A., Brodie A.N., Mayson S.M., Jakway J. Microchromatography of hemoglobins: II. A simplified procedure for the determination of hemoglobin A2. J. Lab. Clin. Med. 86:1975;700-702.
    • (1975) J. Lab. Clin. Med. , vol.86 , pp. 700-702
    • Huisman, T.H.J.1    Schroeder, W.A.2    Brodie, A.N.3    Mayson, S.M.4    Jakway, J.5
  • 26
    • 0019738069 scopus 로고
    • DNA analysis in the diagnosis of hemoglobin disorders
    • Goossens M., Kan Y.W. DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol. 76:1981;805-817.
    • (1981) Methods Enzymol. , vol.76 , pp. 805-817
    • Goossens, M.1    Kan, Y.W.2
  • 27
    • 0032525885 scopus 로고    scopus 로고
    • Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: Implications for their origin
    • Perrin P., Bouhass R., Mselli L., Garguier N., Nigon V.M., Bennani C.et al. Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: implications for their origin. Gene. 213:1998;169-177.
    • (1998) Gene , vol.213 , pp. 169-177
    • Perrin, P.1    Bouhass, R.2    Mselli, L.3    Garguier, N.4    Nigon, V.M.5    Bennani, C.6
  • 28
    • 0033846618 scopus 로고    scopus 로고
    • Analyse moléculaire et diagnostic prénatal de la β-thalassémie: À propos de notre expérience en Tunisie centrale
    • Laradi S., Haj-Khelil A., Omri H., Chaieb A., Mahjoub T., Benlimam H.et al. Analyse moléculaire et diagnostic prénatal de la β-thalassémie: à propos de notre expérience en Tunisie centrale. Ann. Biol. Clin. 58:2000;453-4690.
    • (2000) Ann. Biol. Clin. , vol.58 , pp. 453-4690
    • Laradi, S.1    Haj-Khelil, A.2    Omri, H.3    Chaieb, A.4    Mahjoub, T.5    Benlimam, H.6
  • 29
    • 0026179968 scopus 로고
    • Origin and spread of β-globin gene mutations in India, Africa and Mediterranean: Analysis of the 5′ flanking and intragenic sequences of βs and βc genes
    • Trabuchet G., Elion J., Baudot G., Pagnier J., Bouhass R., Nigon V.M.et al. Origin and spread of β-globin gene mutations in India, Africa and Mediterranean: analysis of the 5′ flanking and intragenic sequences of βs and βc genes. Hum. Biol. 63:1991;241-252.
    • (1991) Hum. Biol. , vol.63 , pp. 241-252
    • Trabuchet, G.1    Elion, J.2    Baudot, G.3    Pagnier, J.4    Bouhass, R.5    Nigon, V.M.6
  • 31
    • 0028238339 scopus 로고
    • Potential regulatory region for the expression of fetal hemglobin in sickle cell disease
    • Pissard S., Beuzard Y.A. Potential regulatory region for the expression of fetal hemglobin in sickle cell disease. Blood. 84:1994;331-338.
    • (1994) Blood , vol.84 , pp. 331-338
    • Pissard, S.1    Beuzard, Y.A.2
  • 34
    • 0033621927 scopus 로고    scopus 로고
    • Two new gamma chain variants: HbF-Clamart [gamma 17(A14) Lys→Asn] and Hb F-Ouled Rabah [gamma19(B1) Asn→Lys]
    • Wajcman H., Borensztajn K., Riou J., Prome D., Hurtrel D., Bardakdjian J.et al. Two new gamma chain variants: HbF-Clamart [gamma 17(A14) Lys→Asn] and Hb F-Ouled Rabah [gamma19(B1) Asn→Lys]. Hemoglobin. 24:2000;45-52.
    • (2000) Hemoglobin , vol.24 , pp. 45-52
    • Wajcman, H.1    Borensztajn, K.2    Riou, J.3    Prome, D.4    Hurtrel, D.5    Bardakdjian, J.6
  • 36
    • 0026734802 scopus 로고
    • Hb Bab-Saadoun or alpha 2 beta(2)48(CD7)Leu→Pro, a mildly unstable variant found in an Arabian boy from Tunisia
    • Molchanova T.P., Wilson J.B., Gu L.H., Guemira F., Fattoum S., Huisman T.H. Hb Bab-Saadoun or alpha 2 beta(2)48(CD7)Leu→Pro, a mildly unstable variant found in an Arabian boy from Tunisia. Hemoglobin. 16:1992;267-273.
    • (1992) Hemoglobin , vol.16 , pp. 267-273
    • Molchanova, T.P.1    Wilson, J.B.2    Gu, L.H.3    Guemira, F.4    Fattoum, S.5    Huisman, T.H.6
  • 37
    • 0024452490 scopus 로고
    • Hemoglobin Athens-Georgia [alpha 2 beta 2 40(C6)Arg→Lys] in association with beta 0-thalassemia in Tunisia
    • Mrad A., Kister J., Feo C., Poyart C., Kastally R., Blibech R.et al. Hemoglobin Athens-Georgia [alpha 2 beta 2 40(C6)Arg→Lys] in association with beta 0-thalassemia in Tunisia. Am. J. Hematol. 32:1989;117-122.
    • (1989) Am. J. Hematol. , vol.32 , pp. 117-122
    • Mrad, A.1    Kister, J.2    Feo, C.3    Poyart, C.4    Kastally, R.5    Blibech, R.6
  • 39
    • 0023398122 scopus 로고
    • Homozygous O Arab hemoglobinopathy in a Tunisian family. a propos of a case
    • Ben Abdeladhim A., Aissaoui B., Boussen M. Homozygous O Arab hemoglobinopathy in a Tunisian family. A propos of a case. Tunis. Med. 65:1988;571-574.
    • (1988) Tunis. Med. , vol.65 , pp. 571-574
    • Ben Abdeladhim, A.1    Aissaoui, B.2    Boussen, M.3
  • 42
    • 0021740022 scopus 로고
    • Seven new cases of hemoglobin Camperdown alpha 2 beta 2 104 (G6)Arg(Ser found in Malta, Sicily and Tunisia
    • Blouquit Y., Lacombe C., Arous N., Le Querrec A., Braconnier F., Bonhomme J.et al. Seven new cases of hemoglobin Camperdown alpha 2 beta 2 104 (G6)Arg(Ser found in Malta, Sicily and Tunisia. Hemoglobin. 8:1984;613-619.
    • (1984) Hemoglobin , vol.8 , pp. 613-619
    • Blouquit, Y.1    Lacombe, C.2    Arous, N.3    Le Querrec, A.4    Braconnier, F.5    Bonhomme, J.6
  • 44
    • 0028176093 scopus 로고
    • The spectrum of β-thalassaemia mutations in the Oran region of Algeria
    • Bouhass R., Perrin P., Trabuchet G. The spectrum of β-thalassaemia mutations in the Oran region of Algeria. Hemoglobin. 18:1994;211-219.
    • (1994) Hemoglobin , vol.18 , pp. 211-219
    • Bouhass, R.1    Perrin, P.2    Trabuchet, G.3
  • 46
    • 0028447618 scopus 로고
    • Anthropological approach to the heterogeneity of β-thalassemia mutations in northern Africa
    • Bennani C., Bouhass R., Perrin-Pécontal P., Tamouza R., Malou M., Elion J.et al. Anthropological approach to the heterogeneity of β-thalassemia mutations in northern Africa. Hum. Biol. 66:1994;369-382.
    • (1994) Hum. Biol. , vol.66 , pp. 369-382
    • Bennani, C.1    Bouhass, R.2    Perrin-Pécontal, P.3    Tamouza, R.4    Malou, M.5    Elion, J.6
  • 48
    • 0034946844 scopus 로고    scopus 로고
    • β-Thalassemia in Turkey: A review of the clinical, epidemiological, molecular and evolutionary aspects
    • Tadmouri G.O., Basak A.N. β-Thalassemia in Turkey: a review of the clinical, epidemiological, molecular and evolutionary aspects. Hemoglobin. 25:2001;227-239.
    • (2001) Hemoglobin , vol.25 , pp. 227-239
    • Tadmouri, G.O.1    Basak, A.N.2
  • 50
    • 0242632723 scopus 로고    scopus 로고
    • The spectrum of β-thalassemia mutations in the Arab populations
    • Zahed L. The spectrum of β-thalassemia mutations in the Arab populations. J. Biomed. Biotechnol. 13:2001;129-132.
    • (2001) J. Biomed. Biotechnol. , vol.13 , pp. 129-132
    • Zahed, L.1
  • 52
    • 0022509529 scopus 로고
    • Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians
    • Chaabani H., Bech-Hansen N., Cox W. Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians. Hum. Genet. 73:1986;110-113.
    • (1986) Hum. Genet. , vol.73 , pp. 110-113
    • Chaabani, H.1    Bech-Hansen, N.2    Cox, W.3
  • 53
    • 0023177954 scopus 로고
    • The molecular basis of β-thalassemia in Lebanon: Application to prenatal diagnosis
    • Chehab F.F., Der Kaloustian V., Khouri F.P., Deeb S.S., Kan Y.W. The molecular basis of β-thalassemia in Lebanon: application to prenatal diagnosis. Blood. 69:1987;1141-1145.
    • (1987) Blood , vol.69 , pp. 1141-1145
    • Chehab, F.F.1    Der Kaloustian, V.2    Khouri, F.P.3    Deeb, S.S.4    Kan, Y.W.5
  • 54
    • 0036998343 scopus 로고    scopus 로고
    • Origin and history of the IVS-I-110 and codon 39 β-thalassemia mutations in the Lebanese population
    • Zahed L., Demont J., Bouhass R., Trabuchet G., Hänni C., Zalloua P.et al. Origin and history of the IVS-I-110 and codon 39 β-thalassemia mutations in the Lebanese population. Hum. Biol. 74:2002;837-847.
    • (2002) Hum. Biol. , vol.74 , pp. 837-847
    • Zahed, L.1    Demont, J.2    Bouhass, R.3    Trabuchet, G.4    Hänni, C.5    Zalloua, P.6
  • 56
    • 0024360719 scopus 로고
    • β-Cluster haplotypes, α-gene status, and hematological data from SS, SC and S-β-thalassemia patients in Southern California
    • Schroeder W.A., Powars D.R., Kay L.M., Chan L.S., Huynh V., Shelton J.B.et al. β-Cluster haplotypes, α-gene status, and hematological data from SS, SC and S-β-thalassemia patients in Southern California. Hemoglobin. 13:1989;325-353.
    • (1989) Hemoglobin , vol.13 , pp. 325-353
    • Schroeder, W.A.1    Powars, D.R.2    Kay, L.M.3    Chan, L.S.4    Huynh, V.5    Shelton, J.B.6
  • 58
    • 0031815437 scopus 로고    scopus 로고
    • Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR
    • Oron-Karni V., Filon D., Oppenheim A., Rund D. Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR. Am. J. Hemat. 58:1998;306-310.
    • (1998) Am. J. Hemat. , vol.58 , pp. 306-310
    • Oron-Karni, V.1    Filon, D.2    Oppenheim, A.3    Rund, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.