Hb Pitie-Salpetriere | beta34(B16)Val->Phe |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Erythrocytosis in the heterozygote; reticulocytosis | ||
ELECTROPHORESIS | No separation of Hb X and Hb A at alkaline pH; in IEF Hb X moves cathodally to Hb A and adjacent to Hb F | ||
CHROMATOGRAPHY | Not performed | ||
STRUCTURE STUDIES | Proteolytic digestion; cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTC->TTC at codon 34 | ||
FUNCTION STUDIES | Increased oxygen affinity | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in a French family | ||
OTHER INFORMATION | Quantity in the heterozygote 36-38% |
REFERENCES | |||
1. | Blouquit, Y., Braconnier, F., Cohen-Solal, M., Foldi, J., Arous, N., Ankri, A., Binet, J.L., and Rosa, J.: Biochim. Biophys. Acta, 624:473, 1980. |