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Human Genetics

, Volume 99, Issue 2, pp 271–274 | Cite as

Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population

  • N. El-Hashemite
  • Mary Petrou
  • A. S. Khalifa
  • N. M. Heshmat
  • Magdy S. Rady
  • Joy D. A. Delhanty
Original investigation

Abstract

β-thalassaemia is a major health problem in Egypt. It has been estimated that of the 1.5 million live births, 1000 children with β-thalassaemia major are born annually. Although the available treatment has increased the life expectancy of patients, it is still unsatisfactory and represents a significant drain on the country’s resources. National screening and prenatal diagnosis programmes can be provided in Egypt once the spectrum of β-thalassaemia mutations has been identified within the Egyptian population. We have examined 16 DNA samples with 21 β-thalassaemia mutations that remained unidentified in a study of 54 patients reported by Rady and colleagues in 1996. Using the polymerase chain reaction and single strand conformation analysis we identified the following changes: frameshift (FS) codon (CD) 8/9 (+G), 4 FS CD 29 (–G) and 2 novel mutations in exon I (15 CD 22 A-C and 1 FS CD 28 –C). In addition, a silent, probably polymorphic mutation, CD 17 G-A was present in all chromosomes.

Keywords

Polymerase Chain Reaction Codon Life Expectancy Live Birth Prenatal Diagnosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • N. El-Hashemite
    • 1
  • Mary Petrou
    • 2
  • A. S. Khalifa
    • 3
  • N. M. Heshmat
    • 3
  • Magdy S. Rady
    • 4
  • Joy D. A. Delhanty
    • 1
  1. 1.The Human Genetics Group, The Galton Laboratory, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK Fax: +44-171-383-2048GB
  2. 2.Perinatal Centre, Department of Obstetrics & Gynaecology, University College London Medical School, 86–96 Chenies Mews, London WC1 6HX, UKGB
  3. 3.Department of Paediatrics, Ain Shams University, Cairo, EgyptEG
  4. 4.Laboratorio Genetica Molecolare, Instituto G. Gaslini, Genoa, ItalyIT

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