Haemoglobin E Saskatoon beta 22 Glu replaced by Lys in the Shetland Islands

A survey of blood samples from the inhabitants of the Shetland Islands has revealed the presence of a variant haemoglobin in 1 individual out of the 345 tested. The rariant haemoglobin accounted for 46% of the total haemoglobin. Tryptic digestion and amino acid analysis indicated that the variant haemoglobin was caused by the substitution of a glutamic acid residue at position 22 in the beta chain by a lysine residue. This is the same amino acid substituion as found in haemoglobin E Saskatoon.