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Hemoglobin
international journal for hemoglobin research
Volume 22, 1998 - Issue 3
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Original Article

The Thalassemia Repository (Ninth Edition; Part II)

(Editorial Assistant) &
Pages 287-310 | Published online: 05 Aug 2009

References

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  • Yüregir G. T., Aksoy K., Çürük M. A, Dikmen N., Fei Y-J., Baysal E., Huisman T. H.J. Hb H disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly A mutation. Br. J. Haematol. 1992; 80: 527
  • Harteveld C. L., Losekoot M., Haak H., Heister J. G.A.M., Giordano P. C., Bernini L. F. A novel polyadenylation signal mutation in the α2-globin gene causing α thalassaemia. Br. J. Haematol. 1994; 87: 139
  • Tamary H., Klinger G., Shalmon L., Attias D., Fortina P., Kobayashi M., Surrey S., Zaizov R. α-Thalassemia caused by a 16 bp deletion in the 3′ untranslated region of the α2-globin gene including the first nucletide of the poly A signal sequence. Hemoglobin 1997; 21: 121
  • Harteveld C. L., Giordano P. C., Delft P., Batelaan D., Beyer C., Bernini L. F. A novel splice donor site mutation of the α1-globin gene causing α-thalassemia. Abstract. 27th International Society of Haematology Congress, Amsterdam, July, 1998
  • Lacerra G., Fioretti G., De Angioletti M., Pagano L., Guarino E., de Bonis C., Viola A., Maglione G., Scarallo A., Db Rosa L., Carestia C. (α)α5.3: A novel α+-thalassemia deletion with the breakpoints in the α2-globin gene and in close proximity to an Alu family repeat between the &PSα2- and psα1-globin genes. Blood 1991; 78: 2740
  • Embury S. H., Miller J. A., Dozy A. M., Kan Y. W., Chan V., Todd D. Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J. Clin. Invest. 1980; 66: 1319
  • Same as Ref. 2
  • Higgs D. R., Hill A. V.S., Bowden D. K., Weatherall D. J., Clegg J. B. Independent recombination events between the duplicated α globin genes: implications for their concerted evolution. Nucleic Acids Res. 1984; 12: 6965
  • Same as Ref. 4
  • Zhao J-B., Zhao L., Fei Y-J., Liu J-C., Huisman T. H.J. A novel α-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease. Am. J. Hematol. 1991; 38: 248
  • Kulozik A. E., Kar B. C., Serjeant G. R., Serjeant B. E., Weatherall D. J. The molecular basis of α thalassemia in India. Its interaction with the sickle cell gene. Blood 1988; 71: 467
  • Indrak K., Gu Y-C., Novotny J., Huisman T. H.J. A new α-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote. Am. J. Hematol. 1993; 43: 144
  • Pressley L., Higgs D. R., Clegg J. B., Weatherall D. J. Gene deletions in α thalassemia prove that the 5′ locus is functional. Proc. Natl. Acad. Sci. USA 1980; 77: 3586
  • Mathew C. G.P., Rousseau J., Rees J. S., Hartley E. H. The molecular basis of α thalassaemia in a South African population. Br J. Haematol. 1983; 55: 103
  • FischelGhodsian N., Vickers M A, Seip M., Winichagoon P., Higgs D. R. Characterization of two deletions that remove the entire human -α globin gene complex (–THAI and - -FIL). Br. J. Haematol. 1988; 70: 233
  • Same as Ref. 3
  • Nicholls R. D., Higgs D. R., Clegg J. B., Weatherall D. J. αo-Thalassemia due to recombination between the α1-globin gene and an Alul repeat. Blood 1985; 65: 1434
  • Same as Ref. 1
  • Kutlar F., Gonzalez-Redondo J. M., Kutlar A., Gürgey A., Altay Ç., Efremov G. D., Kleman K., Huisman T. H.J. The levels of, Y, and δ chains in patients with Hb H disease. Hum. Genet. 1989; 81: 179
  • Pressley L., Higgs D. R., Aldridge B., Metaxotou-Mavromati A, Clegg J. B., Weatherall D. J. Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex. Nucleic Acids Res. 1980; 8: 4889
  • Fortina P., Dianzani I., Serra A., Gottardi E., Saglio G., Farinasso L., Piga A, Gabutti V., Camaschella C. A newly-characterized α-thalassaemia-1 deletion removes the entire α-like globin gene cluster in an Italian family. Br. J. Haematol. 1991; 78: 529
  • Higgs D. R. α-Thalassaemia The Haemoglobinopathies. Bailliere's Clinical Haematology, Vol. 6, D. R. Higgs, D. J. Weatherall. W.B. Saunders Company, London 1993; 117
  • GonzalezRedondo J. M., Diaz-Chico J. C., Malcorra-Azpiazu J. J., Balda-Aguirre M. I., Huisman T. H.J. Characterization of a newly discovered α-thalassaemia-1 in two Spanish patients with Hb H disease. Br. J. Haematol. 1988; 70: 459
  • Villegas A., Sanchez J., Ricard P., Gonzalez F. A., Potro E., Armada B., Carreno D. L., Espinos D. Characterization of a new α-thalassemia-1 mutation in a Spanish family. Hemoglobin 1994; 18: 29
  • Villegas A, Perez Gutierrez A, Diaz MediaVilla J., Espinos D. Observaciones de alfa-talasemia de hemoglobina H en espanoles. Sangre 1979; 24: 1088
  • Villegas A., Calero F., Vickers M. A., Ayyub H., Higgs D. R. α Thalassaemia in two Spanish families. Eur. J. Haematol. 1990; 44: 109
  • GonzalezRedondo J. M., Gilsanz F., Ricard P. Characterization of a new α-thalassemia-1 deletion in a Spanish family. Hemoglobin 1989; 13: 103
  • Shalmon L., Kirschmann C., Zaizov R. A new deletional α-thalassemia detected in Yemenites with Hemoglobin H disease. Am. J. Hematol. 1994; 45: 201
  • Fei Y. J., Liu J. C., Walker E. L.D., Huisman T. H.J. A new gene deletion involving the α2-, α1-, and θ-globin genes in a Black family with Hb H disease. Am. J. Hematol. 1992; 39: 299
  • Higgs D. R., Ayyub H., Clegg J. B., Hill A. V.S., Nicholls R. D., Teal H., Wainscoat J. S., Weatherall D. J. α Thalassaemia in British people. Br. Med. J. Clin. Res. Ed. 1985; 290: 1303
  • Vickers M. A, Higgs D. R. A novel deletion of the entire α-globin gene cluster in a British individual. Br. J. Haematol. 1989; 72: 471
  • Sabath D. E., Defter J. C., Tait J. F. A novel deletion of the entire α globin locus causing α-thalassemia-1 in a Northern European family. Am. J. Clin. Pathol. 1994; 102: 650
  • Felice A E, Cleek M. P., Mc Kie K., Mc-Kie V., Huisman T. H.J. The rare α-thalassemia-1 of Blacks is a α-thalassemia-1 associated with deletion of all α- and -globin genes. Blood 1984; 63: 1253
  • Milner P. F., Huisman T. H.J. Studies on the proportion and synthesis of Haemoglobin G Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both Haemoglobin G and α thalassaemia. Br. J. Haematol. 1976; 43: 207
  • Same as Ref. 10
  • Higgs D. R. α Thalassaemia The Haemoglobinopathies. Bailliere's Clinical Haematology, Vol. 6, D. R. Higgs, D. J. Weatherall. W.B. Saunders Company, London 1993; 117
  • Higgs D. R. Report at the 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April, 1997

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