A new unstable haemoglobin, Hb Buenos Aires,β85 (Fl) phenylalanine→serine has been found in an Argentinian family. Four members were found to be heterozygous for this haemoglobin, and all suffered from a compensated haemolytic anaemia. This haemoglobin is the fifth example of an unstable variant resulting from the substitution of one of the phenylalanine residues in Hb A and underlines the importance of this large hydrophobic amino acid in maintaining the internal structure and stability of the molecule. The clinical and haematological findings of the effect on carriers are discussed in terms of the nature of the mutation, and the genetic features of phenylalanine substitutions in haemoglobin are examined
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© 1973 S. Karger AG, Basel
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