Medical Practice

Molecular Basis for Some Disorders of Haemoglobin Synthesis—I

Br Med J 1974; 4 doi: https://doi.org/10.1136/bmj.4.5942.451 (Published 23 November 1974) Cite this as: Br Med J 1974;4:451
  1. D. J. Weatherall

    Abstract

    The genetic disorders of haemoglobin produce a wide range of clinical syndromes which pose a major public health problem in many parts of the world. Investigation of these conditions at the molecular level has uncovered an extraordinary diversity of mutational events which can produce human disease. These include point mutations, loss of one or more base triplets of the DNA of the haemoglobin genes, insertion of new genetic material, the production of fusion genes due to abnormal crossing over, frame shifts, chain-termination mutations, and the deletion (loss) of complete genes. It is possible in many cases to relate these molecular abnormalities to the clinical pictures which they produce.

    Footnotes

    • * Based on the 1974 Watson Smith lecture given at the Royal College of Physicians of London on 8 May 1974.

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