Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 24, 2000 - Issue 2
85
Views
29
CrossRef citations to date
0
Altmetric
Original Article

Geographic and Ethnic Distribution of β-Thalassemia Mutations in Uttar Pradesh, India

, , , &
Pages 89-97 | Received 28 Jul 1999, Accepted 04 Nov 1999, Published online: 07 Jul 2009

References

  • Verma I. C., Saxena R., Elizabeth T., Jain P. K. Regional distribution of β-thalassemia mutations in India. Hum. Genet. 1997; 100: 109–113
  • Modell B., Bulyzhenkov V. Distribution and control of some genetic disorders. World Health Stat. Q. 1988; 41: 209–218
  • UNICEF. The state of the world children. Oxford University Press, Oxford 1996
  • Kazazian H. H., Jr., Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBOJ 1984; 3: 593–596
  • Wong C., Antonarakis S. E., Goff S. C., Orkin S. H., Boehm C. D., Kazazian H. H., Jr. On the origin and spread of β-thalassemia: recurrent observation of four mutations in different ethnic groups. Prw. Natl. Acad. Sci. USA 1986; 83: 6529–6532
  • Thein S. L., Hesketh C., Wallace R. B., Weatherall D. J. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br. J. Haematol. 1988; 70: 225–231
  • Varawalla N. Y., Old J. M., Sarkar R., Venkatesan R., Weatherall D. J. The spectrum of β-thalassemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br. J. Haematol. 1991; 78: 242–247
  • Varawalla N. Y., Old J. M., Weatherall D. J. Rare β-thalassemia mutations in Asian Indians. Br. J. Haematol. 1991; 79: 640–644
  • Jain P. K., Dozy A. M., Verma I. C., Chehab F. F. A new frameshift mutation insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband. Hum. Mut. 1994; 3: 397–398
  • Huisman T. H.J., Carver M. F.H. The β- and δ-thalassemia repository (ninth edition; part I). Hemoglobin 1998; 22: 169–195
  • Huisman T. H.J., Carver M. F.H., Baysal E. A Syllabus of Thalassemia Mutations. The Sickle Cell Anemia Foundation, Augusta, GAUSA 1997, http://globin.cse.psu.edu
  • Poncz M., Solowiejczyk D., Harpel B., Mory Y., Schwartz E., Surrey S. Construction of human gene libraries fiom small amounts of peripheral blood: analysis of β-like globin genes. Hemoglobin 1982; 6: 27–36
  • 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 amplification refrectory mutation system (ARMS). Nucleic Acids Res 1989; 17: 2503–2516
  • Old J. M., Varawalla N. Y., Weatherall D. J. Rapid detection and prenatal diagnosis of β-thalassemia: studies in Indian and Cypriot population in the U.K. The Lancet 1990; 336: 834–837
  • Agarwal S., Wei Li., Hattori Y., Agarwal S. S. Codon 4 ACT-ACA, codon 5 CCT-TCT and codon 6 GAG-TAG mutations in cis position: a form of thalassemia trait. Am. J.Hematol. 1997; 56: 187–188
  • Agarwal S., Hattori Y., Gupta U. R., Agarwal S. S. A novel Indian β-thalassemia mutation: Hb Lucknow [β8(AS)Lys→Arg]. Hemoglobin 1999; 23: 263–265
  • Agarwal S., Hattori Y., Agarwal S. S. Identification of a novel frameshift β-thalassemia mutation in an Asian Indian. Clin. Genet., in press
  • Garewal G., Fearon C. W., Warren T. C., Marwaha N., Marwaha R. K., Mahadik C., Kazazian J. J., Jr. The molecular basis of β-thalassernia in Punjab and Maharashtrian Indians includes a multilocus aetiology involving triplicated β-globin loci. Br. J. Haematol. 1994; 86: 372–376
  • Dastidar D. G., Dutta R. N., Gupta P., Old J. M. Detection of β-thalassemia in eastern Indian population by polymerase chain reaction. Ind. J. Med. Res. 1994; 100: 111–114
  • Agarwal S., Naveed M., Gupta U. R., Kishore P., Agarwal S. S. Characterization of β-thalassemia families seen at Lucknow. Ind. J. Med. Res. 1994; 100: 106–110
  • Parikh P, Cotton M., Boehm C. D., Kazazian H. H., Jr. Ethnic distribution of β-thalassemia in Indian subcontinent. The Lancet 1990; 336: 1006
  • Venkatesan R., Sarkar R., Old J. M. β-Thalassemia mutations and their linkage to β-haplotypes in Tamil Nadu in southern India. Clin. Genet. 1992; 42: 251–256

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.