| Hb Randwick | beta15(A12)Trp->Gly |
|---|
| CONTACT | Internal; A-E helices spacer | ||
| HEMATOLOGY | Normal in the heterozygote; mild reticulocytosis | ||
| ELECTROPHORESIS | Hb X moves faster than Hb A on cellulose acetate at alkaline pH; Hb X and Hb A can be separated by IEF | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion of betaX chain; fingerprinting by reversed phase HPLC; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation TGG->GGG at codon 15 | ||
| FUNCTION STUDIES | Normal | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in members of a Northern Italian family | ||
| OTHER INFORMATION | Quantity in the heterozygote estimated at 48-50% |
| REFERENCES | |||
| 1. | Gilbert, A.T., Fleming, P.J., Sumner, D.R., Hughes, W.G., Ip, F., Kwan, Y.L., and Holland, R.A.B.: Hemoglobin, 12:149, 1988. | ||