Hb Coimbra | beta99(G1)Asp->Glu |
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ALSO KNOWN AS | Ingelheim | ||
CONTACT | Internal; alpha1beta2 contact | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.52-0.62 l/l) | ||
ELECTROPHORESIS | No separation obtained by standard techniques or by IEF | ||
CHROMATOGRAPHY | Hb X was detected because the betaX chain eluted ahead of betaX in a reversed phase chromatogram | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX+betaA chains; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAT->GAA or GAG at codon 99 | ||
FUNCTION STUDIES | Increased oxygen affinity | ||
STABILITY | Stable | ||
OCCURRENCE | Found in a 60-year-old Portuguese male and his son, and in several members of a large German family | ||
OTHER INFORMATION | Quantity in the heterozygote 48% |
REFERENCES | |||
1. | Tamagnini, G.P., Ribeiro, M.L., Valente, V., Ramachandran, M., Wilson, J.B., Baysal, E., Gu, L-H., and Huisman, T.H.J.: Hemoglobin, 15:487, 1991. | ||
2. | Wajcman, H., Kister, J., Vasseur, C., Blouquit, Y., Behnken, J.L., and Galacteros, F.: Blood, 78:206a (Suppl. 1), 1991. |