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Hemoglobin
international journal for hemoglobin research
Volume 27, 2003 - Issue 4
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Original Article

A Different Molecular Pattern of β‐Thalassemia Mutations in Northeast Brazil

Aderson S. Araújo Hospital de Hematologia da Fundação Hemope, Recife, Brazil
,
Wilson A. Silva Jr. Hemocentro de Ribeirão Preto, R. Tenente Catao Roxo 2501, 14051‐140, Ribeirão Preto, Brazil
,
Silvana A. C. Leão Hospital de Hematologia da Fundação Hemope, Recife, Brazil
,
Flavia C. G. M. Bandeira Hospital de Hematologia da Fundação Hemope, Recife, Brazil
,
Mary Petrou Department of Obstetrics and Gynaecology, Perinatal Centre, University College London, London, UK
,
Bernadette Modell Department of Primary Care and Population Sciences, University College London Medical School, Whittington Hospital, London, UK
&
Professor Marco A. Zago Hemocentro de Ribeirão Preto, R. Tenente Catao Roxo 2501, 14051‐140, Ribeirão Preto, Brazil
 show all
Pages 211-217 | Received 18 Apr 2003, Accepted 11 May 2003, Published online: 07 Jul 2009

References

  • Weatherall D. J. The thalassaemias. Hematology4th ed., W. J. Williams, E. Beutler, A. Jerslev, R. W. Rundles. McGraw Hill Book Company, New York 1990; 267–283
  • Zago M. A., Costa F. F. Hereditary haemoglobin disorders in Brazil. Roy Soc Trop Med Hyg 1985; 79: 385–388
  • Zago M. A., Silva W. A., Jr., Franco R. F. Hemoglobinopathies and other hereditary hematological diseases in the Brazilian population. Ciên Cultura 1999; 51: 227–234
  • Flint J., Harding R. M., Boyce A. J., Clegg J. B. The populations genetics of haemoglobinopathies. The Haemoglobinopathies, D. J. Weatherall, D. R. Higgs. Baillière's Clinical Haematology, W.B. Saunders Company, London 1993; 6: 215–262
  • Zago M. A., Figueiredo M. S., Ogo S. H. The bantu β0 haplotype predominates among Brazilian blacks. Am J Phys Anthropol 1992; 88(3)295–298
  • Figueiredo M. S., Olympio Silva M. C.B., Guerreiro J. F., Pante Souza G., Pires A. C.R., Zago M. A. The heterogeneity of the βS cluster haplotypes in Brazil. Gene Geogr 1994; 8(1)7–12
  • Ribeiro D. O Povo Brasileiro: a Formação e o Sentido do Brasil. Editora Companhia das Letras, São Paulo 1995; 193–207
  • Costa F. F., Tavela M. H., Zago M. A. Molecular basis of β‐thalassemia in Brazil. Blood 1990; 76(10(suppl 1))58
  • Fonseca S. F., Kerbauy J., Escrivao C., Figueiredo M. S., Cancado R., Arruda V. R., Saad S. T.O., Costa F. F. Genetic analysis of β‐thalassemia major and β‐thalassemia intermedia in Brazil. Hemoglobin 1998; 22(3)197–207
  • Lima M. O. Pernambuco seu Desenvolvimento Histórico3rd ed. Editora Massangana, Recife 1895; 322
  • Dlouhy S. R., Wheeler P., Trofatter J. A., Stambrook P. J., Tischfield J. A. Detection of point mutations by denaturing‐gradient gel electrophoresis. Methods in Molecular Biology, C. Mathew. Protocols in human molecular genetics, The Humana Press Inc., Clinton 1991; 9: 95–111
  • Dozy A. M., Kan Y. W. Characterization of β‐thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations. Clin Genet 1994; 45(5)221–227
  • Dumars K. W., Boehm C., Eckman J. R., Giardina P. J., Lane P. A., Shafer F. E. Practical guide to the diagnosis of thalassemia. Am J Med Genet 1996; 62(1)29–37
  • Fodde R., Losekoot M. Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat 1994; 3(2)83–94
  • Huisman T. H.J., Jonxis J. H.P. The Hemoglobinopathies Techniques of Identification. Clinical and Biochemical Analysis, Marcel Dekker Inc., New York 1977; 6
  • Losekoot M., Fodde R., Harteveld C. L., Heeren H. V., Giordano P. C., Bernini L. F. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to β thalassaemia. Br J Hematol 1990; 76(2)269–274
  • Newton C. R., Graham A., Heptinstall L. E., Powell S. J., Summers C., Kalsheker N., Smith J. C., Markham A. F. Analysis of any point mutation in DNA. The amplication refractory mutation system (ARMS). Nucleic Acids Res 1989; 17(7)2503–2516
  • Nickerson D. A., Tobe V. O., Taylor S. L. PoliPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence‐based resequencing. Nucleic Acids Res 1997; 25(14)2745–2751
  • Old J. M. Detection of mutations by the amplification refractory mutation system (ARMS). Methods Mol Biol 1991; 9: 77–84
  • Tuzmen S., Schechter A. N. Genetic diseases of hemoglobin: diagnostic methods for elucidating β‐thalassemia mutations. Blood Rev. 2001; 15(1)19–29
  • Wong C., Dowling C. E., Saiki R. K., Higuchi R. G., Erlich H. A., Kazazian H. H., Jr. Characterization of β‐thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 1987; 330: 384–386
  • Old J. M., Khan S. N., Verma I., Fucharoen S., Kleanthous M., Ioannou P., Kotea N., Fisher C., Riazuddin S., Saxena R., Winichagoon P., Kyriacou K., Al‐Quobaili F., Khan B. A multi‐center study in order to further define the molecular basis of β‐thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system‐polymerase chain reaction. Hemoglobin 2001; 25(4)397–407
  • Ratip S., Petrou M., Old J. M., Wonke B., Porter J., Modell B. Relationship between the severity of β‐thalassemia syndromes and the number of alleviating mutations. Eur J Haematol 1997; 58(1)14–21
  • Thein S. L. β‐Thalassaemia. The Haemoglobinopathies, D. J. Weatherall, D. R. Higgs. Baillière's Clinical Haematology, W.B. Saunders Company, London 1993; 151–175
  • Zahed L., Talhouk R., Saleh M., Abou‐Jaoudeh R., Fisher C., Old J. The spectrum of β‐thalassemia mutations in the Lebanon. Hum Hered 1997; 47(5)241–249

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