Hb Olmsted | beta141(H19)Leu->Arg |
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CONTACT | Internal; heme contact | ||
HEMATOLOGY | Heinz body hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | No separation reported except of the betaX and betaA chains on starch gel or cellulose acetate in the presence of 6 M urea | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CGG at codon 141 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a 12-year-old Caucasian male but not his parents | ||
OTHER INFORMATION | Quantity in the heterozygote reported as 5-10% |
REFERENCES | |||
1. | Fairbanks, V.F., Opfell, R.W., and Burgert, E.O.: Am. J. Med., 46:344, 1969. | ||
2. | Lorkin, P.A., Lehmann, H., and Fairbanks, V.F.: Biochim. Biophys. Acta, 386: 256, 1975. |