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.
D005260:Female; D005971:Glutamates; D006446:Hemoglobin E / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D008239:Lysine; D006113:United Kingdom
D005971:Glutamates; D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E; D008239:Lysine