| Hb Chesterfield | beta28(B10)Leu->Arg |
|---|
| CONTACT | Internal | ||
| HEMATOLOGY | Severe heterozygous beta-thal | ||
| ELECTROPHORESIS | No abnormal Hb could be detected on electrophoresis at pH 8.6 but separation of in vitro labeled globin chains showed a betaX peak eluting after the normal betaA chain | ||
| CHROMATOGRAPHY | No separation reported (see above) | ||
| STRUCTURE STUDIES | None reported | ||
| DNA ANALYSES | A CTG->CGG mutation at codon 28 | ||
| FUNCTION STUDIES | Not reported | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in a 34-year-old English woman | ||
| OTHER INFORMATION | The mutation at codon 28 abolishes a Bst NI restriction site that will aid in the identification |
| REFERENCES | |||
| 1. | Thein, S.L., Best, S., Sharpe, J., Paul, B., Clark, D.J., and Brown, M.J.: Blood, 77:2791, 1991. | ||