Hemoglobin Rainier, a new hemoglobin variant associated with erythrocytosis, was found in six members of a Caucasiant family. Structurally, it represents substitution of histidine for the invariant residute H23 tyrosine in the beta-hemoglobin polypeptide chain (beta(145) tyrosine --> histidine). Hemoglobin Rainier is the first example of a single amino acid substitution in adult human hemoglobin, causing increased resistance to alkali denaturation.
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Stamatoyannopoulos et al. (1968) studied this question.
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