Hb Denver | beta41(C7)Phe->Ser |
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CONTACT | Heme contact | ||
HEMATOLOGY | Normal to mild anemia in the heterozygote; cyanosis | ||
ELECTROPHORESIS | No separation obtained at alkaline pH or by IEF | ||
CHROMATOGRAPHY | No separation reported | ||
STRUCTURE STUDIES | No details reported | ||
DNA ANALYSES | Not reported; presumed mutation TTC->TCC at codon 41 | ||
FUNCTION STUDIES | Decreased oxygen affinity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in members of a Caucasian family | ||
OTHER INFORMATION | None; quantity in the heterozygote not determined |
REFERENCES | |||
1. | Stabler, S., Jones, R.T., Head, C, Shih, D.T.B., and Fairbanks, V.F.: Blood, 82: 229a (Suppl. 1), 1993. |