Skip to main content

Hemoglobinopathies

Community Clues to Mutation Detection

  • Protocol
Molecular Diagnosis of Genetic Diseases

Part of the book series: Methods in Molecular Medicineā„¢ ((MIMM,volume 5))

Abstract

The hemoglobinopathies are a diverse group of inherited recessive disorders consisting of the structural hemoglobin variants and the thalassemias. They can occur at very high carrier frequencies in the malarious regions of the world and are regionally specific, with each population having a unique combination of structural variants and thalassemia mutations. Therefore, knowledge of the ethnic origin of a patient is usually essential for the quick identification of the underlying molecular defect(s) in the globin genes.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Baysal, E. (1992) The Ī² and Ī“ thalassemia repository. Hemoglobin 16, 237ā€“258.

    ArticleĀ  Google ScholarĀ 

  2. Flint, J., Harding, R. M., Boyce, A. J., and Clegg, J. B. (1993) The population genetics of the haemoglobmopathres, in BailliĆØreā€™s Clinical Haematology: Haemoglobznopathies (Higgs, D. R. and Weatherall, D. J., eds.), Bailhere Tindall and W.B. Saunders, London, pp. 215ā€“262.

    Google ScholarĀ 

  3. Higgs, D. R. (1993) Ī±-thalassaemta, in BailliĆØreā€™s Clinical Haematology. The Haemoglobinopathies (Higgs, D R. and Weatherall, D. J., eds), Baillibre Tindall and W.B. Saunders, London, pp. 117ā€“150.

    Google ScholarĀ 

  4. Higgs, D. R., Pressley, L., Aldridge, B., Clegg, J B., Weatherall, D. J., Cao, A., et al. (1981) Genetic and molecular diversity in nondeletion HbH disease. Proc. Natl. Acad Sci USA 78, 5833ā€“5837

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  5. Wimchagoon, P., Higgs, D. R., Goodbourn, S. E. Y., Clegg, J. B., Weatherall, D J., and Wan, P. (1984) The molecular basis of Ī±-thalassaemia in Thailand. EMBO J 3, 1813ā€“1818.

    Google ScholarĀ 

  6. Vandenplas, S., Higgs, D. R., Nicholls, R. D., Bester, A. J., and Mathew, C. G. P. (1987) Characterization of a new Ī±0 thalassaemia defect in the South African population. Br J. Haematol. 66, 539ā€“542.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  7. Higgs, D. R., Ayyub, H., Clegg, J. B., Hill, A. V. S., Nicholls, R. D., Teal, H., et al. (1985) Ī±-Thalassaemia in British people. Br. Med. J. 290, 1303ā€“1306.

    ArticleĀ  CASĀ  Google ScholarĀ 

  8. Fuchel-Ghodsian, N., Vickers, M. A., Seip, M., Winichagoon, P., and Higgs, D. R. (1988) Characterization of two deletions that remove the entire human Ī¶-Ī± globin gene complex (ā€”THAI and ā€”FIL). Br J Haematol 70, 233ā€“238

    ArticleĀ  Google ScholarĀ 

  9. Faa, V., Rosatelli, M. C., Sardu, R., Meloni, A., Toffoh, C., and Cao, A. (1992) A simple electrophoretic procedure for fetal diagnosis of Ī²-thalassaemia due to short deletions. Prenat Drag 12, 903ā€“908

    ArticleĀ  CASĀ  Google ScholarĀ 

  10. Craig, J. E., Barnetson, R. A., Prior, J., Raven, J. L., and Thein, S. L. (1994) Rapid detection of deletions causing Ī“Ī² thalassemta and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 83, 1673ā€“1682.

    PubMedĀ  CASĀ  Google ScholarĀ 

  11. Ristaldi, M. S., Pirastu, M., Rosatelli, C., and Cao, A. (1989) Prenatal diagnosis of Ī²-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes. Prenat. Diag 9, 629ā€“638.

    ArticleĀ  CASĀ  Google ScholarĀ 

  12. Old, J. M., Varawalla, N. Y., and Weatherall, D. J. (1990) The rapid detection and prenatal diagnosis of Ī² thalassaemia in the Asian Indian and Cypriot populations in the UK. Lancet 336, 834ā€“837.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  13. Varawalla, N., Old, J. M., and Fitches, A. C. (1992) Analysis of S-globin gene haplotypes in Asian Indians: Origin and spread of Ī²-thalassaemia on the Indian subcontinent. Hum. Genet. 90, 443ā€“449.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  14. Newton, C. R., Graham, A., and Heptinstall, L. E. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucl. Acids Res. 17, 2503ā€“2516.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  15. Kwok, S., Kellogg, D. E., McKinney, N., Spasic, D., Goda, L., Levenson, C., et al. (1990) Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type I model studies. Nucl. Acids Res. 18, 999ā€“1005.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  16. Varawalla, N. Y., Old, J. M., Sarkar, R., Venkatesan, R., and Weatherall, D. J. (1991) The spectrum of g thalassemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br. J. Haematol. 78, 242ā€“247.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

Ā© 1996 Humana Press Inc, Totowa, NJ

About this protocol

Cite this protocol

Old, J.M. (1996). Hemoglobinopathies. In: Elles, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicineā„¢, vol 5. Humana Press. https://doi.org/10.1385/0-89603-346-5:169

Download citation

  • DOI: https://doi.org/10.1385/0-89603-346-5:169

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-346-7

  • Online ISBN: 978-1-59259-589-1

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics