Hb Randwick | beta15(A12)Trp->Gly |
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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. |