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CONTACT | |
Internal | |
HEMATOLOGY | |
Severe erythrocytosis in the heterozygote (PCV 0.65 l/l) | |
ELECTROPHORESIS | |
No separation of Hb X and Hb A with conventional techniques; separation is possible by IEF | |
CHROMATOGRAPHY | |
Hb X can be isolated by anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation AGT->AAT at codon 89 | |
FUNCTION STUDIES | |
Greatly increased oxygen affinity; decreased Bohr effect; markedly reduced cooperativity; does not interact with 2,3-DPG | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in two members of a family from Southern France | |
OTHER INFORMATION | |
Quantity in the heterozygote 30% | |
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REFERENCES |
1. | |
Thillet, J., Blouquit, Y., Garel, M.C., Dreyfus, B., Reyes, F., Cohen-Solal, M., Beuzard, Y., and Rosa, J.: J. Mol. Med., 1:135, 1976. | |
2. | |
Poyart, C., Bursaux, E., Teisseire, B., Freminet, A., Duvelleroy, M., and Rosa, J.: Ann. Int. Med., 88:758, 1978. | |
3. | |
Arnone, A., Thillet, J., and Rosa, J.: J. Biol. Chem., 256:8545, 1981. | |