Hb Peterborough | beta111(G13)Val->Phe |
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CONTACT | Internal | ||
HEMATOLOGY | Mild anemia in the heterozygote; reticulocytosis | ||
ELECTROPHORESIS | No separation reported using standard techniques | ||
CHROMATOGRAPHY | No separation of Hb X and Hb A reported; the variant was obtained from a blood sample of a subject who was also heterozygous for Hb Lepore | ||
STRUCTURE STUDIES | Tryptic digestion of AE-globin; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTC->TTC at codon 111 | ||
FUNCTION STUDIES | Decreased oxygen affinity; normal Bohr effect and cooperativity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a few members of an Italian family living in England | ||
OTHER INFORMATION | The son is heterozygous for Hb X (33.4%) and Hb Lepore |
REFERENCES | |||
1. | King, M.A.R., Wiltshire, B.G., Lehmann, H., and Morimoto, H.: Br. J. Haematol., 22:125, 1972. |