Genotypic Correlation Between Six Common β-Thalassemia Mutations and the XmnI Polymorphism in the Moroccan Population

REFERENCES

• Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 3rd. Blackwell Science, Oxford 1981
   Google Scholar
• Kazazian HH, Jr, Boehm CD. Molecular basis and prenatal diagnosis of β-thalassemia. Blood 1988; 72(4)1107–1116
   PubMed Web of Science ®Google Scholar
• Rodgers GP, Rachmilewitz EA. Novel treatment options in the severe β-globin disorders. Br J Haematol 1995; 91(2)263–268
   PubMedGoogle Scholar
• Olivieri NF, Rees DC, Ginder GD, Thein SL, Waye JS, Chang L, Brittenham GM, Weatherall DJ. Elimination of transfusion through induction of fetal hemoglobin synthesis in Cooley's Anemia. Ann NY Acad Sci 1998; 850: 100–109
   PubMedGoogle Scholar
• Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3)1215
   PubMed Web of Science ®Google Scholar
• Old JM. Hemoglobinopathies. Molecular Diagnosis of Genetic Diseases, R Elles. Humana Press Inc, Totowa 1996; 169–183
   Google Scholar
• Antonarakis SE, Kazazian HH, Jr, Orkin SH. DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 1985; 69(1)1–14
   PubMed Web of Science ®Google Scholar
• Craig JE, Sheerin SM, Barnetson R, Thein SL. The molecular basis of HPFH in a British family identified by heteroduplex formation. Br J Haematol 1993; 84(1)106–110
   PubMed Web of Science ®Google Scholar
• Cao A, Gossens M, Pirastu M. β-Thalassaemia mutations in Mediterranean populations. Br J Haematol 1989; 71(3)309–312
   PubMed Web of Science ®Google Scholar
• Chibani J, Vidaud M, Duquesnoy P, Bergé-Lefranc JL, Pirastu M, Ellouze F, Rosa J, Goossens M. The peculiar spectrum of β-thalassemia genes in Tunisia. Hum Genet 1988; 78(2)190–192
   PubMed Web of Science ®Google Scholar
• Rouabhi F, Lapouméroulie C, Amselem S, Krishnamoorthy R, Adjrad L, Girot R, Chardin P, Benabdji M, Labie D, Beldjord C. DNA haplotype distribution of Algerian β-thalassemia patients. Hum Genet 1988; 79(4)373–376
   PubMed Web of Science ®Google Scholar
• Faustino P, Pacheco P, Loureiro P, Noguiera PJ, Lavinha J. The geographic pattern of β-thalassaemia mutations in the Portuguese population. Br J Haematol 1999; 107(4)903–904
   PubMed Web of Science ®Google Scholar
• Tadmouri GO, Basak AN. β-Thalassemia in Turkey: a review of the clinical, epidemiological, molecular and evolutionary aspects. Hemoglobin 2001; 25(2)227–239
   PubMed Web of Science ®Google Scholar
• Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay C, Gurgey A, Kilinc Y, Huisman THJ. Mild and severe β-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood 1988; 71(1)248–251
   PubMed Web of Science ®Google Scholar
• Aulehla-Scholz C, Basaran S, Agaoglu L, Arcasoy A, Holzgreve W, Miny P, Ridolfi F, Horst J. Molecular basis of β-thalassemia in Turkey: detection of rare mutations by direct sequencing. Hum Genet 1990; 84(2)195–197
   PubMed Web of Science ®Google Scholar
• Thein SL. β-Thalassaemia. The Haemoglobinopathies. Bailliére's Clinical Haematology, Vol, DR Higgs, DJ Weatherall. W.B. Saunders Company, London 1993; 6: 171–176
   Google Scholar
• Qatanami M, Taher A, Koussa S, Naaman R, Fisher C, Rugless M, Old J, Zahed L. β-Thalassemia intermedia in Lebanon. Eur J Haematol 2000; 64(4)237–244
   PubMedGoogle Scholar
• Thein SL, Wainscoat JS, Sampietro M, Old JM, Cappellini D, Fiorelli G, Modell B, Weatherall DJ. Association of thalassaemia intermedia with a β globin gene haplotype. Br J Haematol, 65(3)367–373
   PubMedGoogle Scholar
• Orkin SH, Goff SC. Nonsense and frameshift mutations in β-thalassemia detected in cloned β‐globin genes. J Biol Chem 1981; 256(19)9782–9784
   PubMed Web of Science ®Google Scholar
• Filon D, Faerman M, Smith P, Oppenheim A. Sequence analysis reveals a β-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel. Nat Genet 1995; 9(4)365–368
   PubMedGoogle Scholar
• El-Hazmi MAF, Warsy AS, Al-Swailem AR. The frequency of 14 β-thalassemia mutations in the Arab population. Hemoglobin 1995; 19(6)353–360
   PubMed Web of Science ®Google Scholar
• Tadmouri GO, Tuzmen P, Ozçelik H, Ozer A, Baig SM, Senga EB, Basak AN. Molecular and population genetic analyses of β-thalassemia in Turkey. Am J. Hematol 1998; 57(3)215–220
   PubMed Web of Science ®Google Scholar
• Benito A, Villegas A, Perez-Cano R, Bernal R. β-Thalassaemia in south-western Spain: high frequency of G→A (IVS I-1) mutation. Br J Haematol 1996; 92(2)369–382
   Google Scholar
• Rosatelli MC, Dozy A, Faa V, Meloni A, Sardu R, Saba L, Kan YW, Cao A. Molecular characterization of β-thalassemia in the Sardinian population. Am J Hum Genet 1992; 50(2)422–426
   PubMed Web of Science ®Google Scholar
• Fattoum S, Guemira F, Oner C, Oner R, Li H-W, Kutlar F, Huisman THJ. β-Thalasemia, Hb S-β-thalassemia and sickle cell anemia among Tunisians. Hemoglobin 1991; 15(1)11–21
   PubMed Web of Science ®Google Scholar
• Lemsaddek W, Picanço I, Seuanes F, Nogueira P, Mahmal L, Benchekroun Khattab M, Osório-Almeida L. The β-thalassemia mutation/haplotype distribution in the Moroccan population. Hemoglobin 2004; 28(1)25–37
   PubMed Web of Science ®Google Scholar
• Wong C, Antonarakis SE, Goff SC, Orkin SH, Boehm CD, Kazazian HH, Jr. On the origin and spread of β-thalassemia: recurrent observation of four mutations in different ethnic groups. Proc Natl Acad Sci USA 1986; 83(17)6529–6532
   PubMedGoogle Scholar
• Bennani C, Bouhass R, Perrin-Percontal P, Tamouza R, Malou M, Elion J, Trabuchet G, Beldjord C, Benadabji M, Labie D. Anthropological approach to the heterogeneity of β-thalassemia mutations in northern Africa. Hum Biol 1994; 66(3)369–382
   PubMed Web of Science ®Google Scholar
• Labie D, Bennani C, Beldjord C. β-Thalassemia in Algeria. Ann NY Acad Sci 1990; 612: 43–45
   PubMed Web of Science ®Google Scholar
• Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent β-thalassemia patients. Haematologica 2004; 89(10)1172–1178
   PubMed Web of Science ®Google Scholar
• Orkin SH, Kazazian HH, Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296(5858)627–631
   PubMed Web of Science ®Google Scholar