ClinVar

See Stamatoyannopoulos et al. (1968), Adamson et al. (1969), Stamatoyannopoulos and Yoshida (1969), Greer and Perutz (1971), Hayashi et al. (1971), and Salhany (1972). Hb Rainier causes erythrocytosis and is the only adult hemoglobin that is alkali-resistant. See Hb Bethesda (141900.0022), with which Rainier was confused earlier. Peters et al. (1985) studied a hemoglobin mutation induced by ethylnitrosourea in the mouse. Substitution of cysteine for tyrosine at codon 145 of the HBB gene was demonstrated by amino acid analysis. They proposed that an A-to-G transition in the tyrosine codon (TAC-to-TGC) had occurred. The mouse was polycythemic.

Carbone et al. (1999) identified a high oxygen affinity hemoglobin variant in a 53-year-old male from Naples, Italy, who suffered from pulmonary thromboembolism and polycythemia. Characterization of this variant at the protein level detected the presence of Hb Rainier. The mutation resulted from an A-to-G transition at the second position of codon 145 of the HBB gene, resulting in a tyr145-to-cys substitution.