Hb Sydney | beta67(E11)Val->Ala |
---|
CONTACT | Heme contact | ||
HEMATOLOGY | Inclusion body hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X moves as a broad band behind Hb A at alkaline pH | ||
CHROMATOGRAPHY | Not studied | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTG->GCG at codon 67 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a German and an English family | ||
OTHER INFORMATION | Quantity in the heterozygote 40%; an additional structural change observed at beta141 leucine->hydroxyleucine (see also Hb Manukau; Hb Atlanta) |
REFERENCES | |||
1. | Carrell, R.W., Lehmann, H., Lorkin, P.A., Raik, E., and Hunter, E.: Nature, 215: 626, 1967. | ||
2. | Casey, R., Lang, A., Lehmann, H., and Shinton, N.K.: Br. J. Haematol., 33:143, 1976. |