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CONTACT | |
Internal; heme and alpha1beta2 contacts | |
HEMATOLOGY | |
Cyanosis; normal hematology in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline pH; Hb X moves between Hb F and Hb A | |
CHROMATOGRAPHY | |
Hb X can be isolated by cation exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation AAC->AGC at codon 102 | |
FUNCTION STUDIES | |
Increased oxygen affinity; normal Bohr effect; decreased cooperativity | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a 13-year-old male of Italian descent but not in his parents; also in a 14-year-old Yugoslavian male but not in his parents | |
OTHER INFORMATION | |
Quantity in the heterozygote 40% | |
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REFERENCES |
1. | |
Nagel, R.L., Lynfield, J., Johnson, J., Landau, L., Bookchin, R.M., and Harris, M.B.: N. Engl. J. Med., 295:125, 1976. | |
2. | |
Efremov, G.D., Stojmirovic, E., Lam, H.L., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 2:75:1978. | |
3. | |
Hirsch, R.E. and Nagel, R.L.: J. Biol. Chem., 256:1080, 1981. | |