Abstract
An unstable haemoglobin with the electrophoretic properties of normal adult haemoglobin A has been identified in a Genoese family with severe haemolytic anaemia. It differs from A by the substitution in its β-chain of proline for leucine at position 10 of the B helix. This substitution accounts for the disease in molecular terms because proline would interrupt the helical configuration.
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SANSONE, G., CARRELL, R. & LEHMANN, H. Haemoglobin Genova: β28 (B10) Leucine→Proline. Nature 214, 877–879 (1967). https://doi.org/10.1038/214877a0
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DOI: https://doi.org/10.1038/214877a0
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