Hb Crete | beta129(H7)Ala->Pro |
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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. |