| 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. | ||