Hb Roanne | alpha94(G1)Asp->Glu |
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CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | No data available; carrier had mild chronic anemia of unknown etiology | ||
ELECTROPHORESIS | Hb X has a pI intermediate between those for Hb A and Hb F by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Separation of tryptic peptides of alphaA and alphaX chains by reversed phase HPLC; amino acid analysis; electrospray mass spectral analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAC->GAG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Decreased oxygen affinity | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in a French woman | ||
OTHER INFORMATION | Quantity in the heterozygote estimated at 20% |
REFERENCES | |||
1. | Kister, J., Kiger, L., Francina, A., Hanny, P., Szymanowicz, A., Blouquit, Y., Promé, D., Galactéros, F., Delaunay, J., and Wajcman, H.: Biochim. Biophys. Acta, 1246:34, 1995. |