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Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletion

Abstract

Two independent groups show that the absence of all or part of the globin α-chain gene is the origin of the homozygous α thalassaemia.

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References

  1. Weatherall, D. J., and Clegg, J. B., The Thalassaemia Syndromes (Blackwell Scientific, Oxford, 1972).

    Google Scholar 

  2. Nathan, D. B., and Gunn, R. B., Am. J. Med., 41, 815 (1966).

    Article  CAS  Google Scholar 

  3. Fessas, P., Blood, 21, 21 (1963).

    CAS  PubMed  Google Scholar 

  4. Clegg, J. B., and Weatherall, D. J., Ann. N. Y Acad. Sci., 232, 168 (1974).

    Article  ADS  CAS  Google Scholar 

  5. Clegg, J. B., Weatherall, D. J., and Milner, P. F., Nature, 234, 337 (1971).

    Article  ADS  CAS  Google Scholar 

  6. Weatherall, D. J., Clegg, J. B., and Wong, H. B., Br. J. Haemat., 18, 357 (1970).

    Article  CAS  Google Scholar 

  7. Clegg, J. B., and Weatherall, D. J., Nature, 215, 1241 (1967).

    Article  ADS  CAS  Google Scholar 

  8. Housman, D., Forget, B. G., Skoultchi, A., and Benz, E. J., Proc. natn. Acad. Sci. U.S.A., 70, 1809 (1973).

    Article  ADS  CAS  Google Scholar 

  9. Benz, E. J., Swerdlow, P. S., and Forget, B. G., Blood, 42, 825 (1973).

    CAS  PubMed  Google Scholar 

  10. Pritchard, J., Clegg, J. B., Weatherall, D. J., and Longley, J., Br. J. Haemat. (in the press).

  11. Grossbard, E., Terada, M., Dow, L. W., and Bank, A., Nature, 241, 209 (1973).

    Article  CAS  Google Scholar 

  12. Lie-Injo, E., Ganesan, J., Clegg, J. B., and Weatherall, D. J., Blood, 43, 251 (1974).

    CAS  PubMed  Google Scholar 

  13. Wasi, P., Br. J. Haemat., 24, 267 (1973).

    Article  CAS  Google Scholar 

  14. Lehmann, H., Lancet, ii, 78 (1970).

    Article  Google Scholar 

  15. Nienhuis, A. W., and Anderson, W. F., J. clin. Invest., 50, 2458 (1971).

    Article  CAS  Google Scholar 

  16. Benz, E. J., and Forget, B. G., J. clin. Invest., 50, 2755 (1971).

    Article  CAS  Google Scholar 

  17. Aviv, H., and Leder, P., Proc. natn. Acad. Sci. U.S.A., 69, 1408 (1972).

    Article  ADS  CAS  Google Scholar 

  18. Adesnik, M., Salditt, M., Thomas, W., and Darnell, J. E., J. molec. Biol., 71, 21 (1972).

    Article  CAS  Google Scholar 

  19. Williamson, R., Morrison, M. R., Lanyon, G., Eason, R., and Paul, J., Biochemistry, 10, 3014 (1971).

    Article  CAS  Google Scholar 

  20. Gurdon, J. B., Lane, C. D., Woodland, H. R., and Marbaix, G., Nature, 233, 177 (1971).

    Article  ADS  CAS  Google Scholar 

  21. Mathews, M. B., and Korner, A., Eur. J. Biochem., 17, 328 (1970).

    Article  CAS  Google Scholar 

  22. Roberts, B. E., and Paterson, B. M., Proc. natn. Acad. Sci. U.S.A., 70, 2330 (1973).

    Article  ADS  CAS  Google Scholar 

  23. Harrison, P. R., Birnie, G. D., Hell, A., Humphries, S., Young, B. D., and Paul, J., J. molec. Biol., 84, 539 (1974).

    Article  CAS  Google Scholar 

  24. Young, B. D., Harrison, P. R., Gilmour, R. S., Birnie, G. D., Hell, A., Humphries, S., and Paul, J., J. molec. Biol., 84, 555 (1974).

    Article  CAS  Google Scholar 

  25. Hell, A., Birnie, G. D., Slimming, T. K., and Paul, J., Anal. Biochem., 48, 369 (1972).

    Article  CAS  Google Scholar 

  26. Britten, R. J., Carnegie Institution Yearbook, 67, 327 (1968).

    Google Scholar 

  27. Kohne, D. E., Q. Rev. Biophys., 33, 327 (1970).

    Article  Google Scholar 

  28. Packman, S., Aviv, H., Ross, J., and Leder, P., Biochem. biophys. Res. Commun., 49, 813 (1972).

    Article  CAS  Google Scholar 

  29. Bishop, J. O., and Rosbash, M., Nature new Biol., 241, 204 (1973).

    Article  CAS  Google Scholar 

  30. Harrison, P. R., Hell, A., Birnie, G. D., and Paul, J., Nature, 239, 219 (1972).

    Article  ADS  CAS  Google Scholar 

  31. Capp, G. L., Rigas, D. A., and Jones, R. T., Nature, 228, 280 (1970).

    Article  Google Scholar 

  32. Huehns, E. R., in Blood and its Disorders (edit. by Hardisty, R. M., and Weatherall, D. J.), 526 (Blackwell, Scientific, Oxford, 1974).

    Google Scholar 

  33. Perry, R. P., La Torre, J., Kelley, D. E., and Greenberg, J. R., Biochim. biophys. Acta., 262, 220 (1972).

    Article  CAS  Google Scholar 

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OTTOLENGHI, S., LANYON, W., PAUL, J. et al. Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletion. Nature 251, 389–392 (1974). https://doi.org/10.1038/251389a0

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