Hb Chesterfield | beta28(B10)Leu->Arg |
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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. |