| Hb Crete | beta129(H7)Ala->Pro |
|---|
| CONTACT | Internal | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A do not separate with standard techniques; Hb X moves ahead of Hb A by IEF | ||
| CHROMATOGRAPHY | Hb X was isolated on a Bio-Rex 70 column | ||
| STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by fin-gerprinting; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GCC->CCC at codon 129 | ||
| FUNCTION STUDIES | Increased oxygen affinity; decreased cooperativity; normal Bohr effect | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in three members of a Greek family living in New York | ||
| OTHER INFORMATION | Found in combination with betao- and (deltabeta)o-thal |
| REFERENCES | |||
| 1. | Maniatis, A., Bousios, Th., Nagel, R.L., Balazs, T., Ueda, Y., Bookchin, R.M., and Maniatis, G.M.: Blood, 54:54, 1979. | ||