Hb Borås | beta88(F4)Leu->Arg |
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CONTACT | Heme contact | ||
HEMATOLOGY | Moderately severe hemolytic anemia; Heinz bodies | ||
ELECTROPHORESIS | Hb X moves slower than Hb A at alkaline pH | ||
CHROMATOGRAPHY | Hb X elutes behind Hb A2 on a cation exchange HPLC column; the betaX and betaA chains separate on a reversed phase HPLC column (elution order: betaX, betaA, alpha) | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC or fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CGG at codon 88 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in members of a Swedish family and a young South African female (her parents are both normal) | ||
OTHER INFORMATION | Quantity in the heterozygote ~25% |
REFERENCES | |||
1. | Hollender, A., Lorkin, P.A., Lehmann, H., and Svenson, B.: Nature, 222:953, 1969. | ||
2. | Bird, A.R., Elliot, T.E., Wilson, J.B., Webber, B.B., Kutlar, F., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 11:157, 1987. |