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ALSO KNOWN AS | |
Kaohsiung | |
CONTACT | |
Internal | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A; no separation at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A readily separate by cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
A GTG->GAG mutation at codon 113 (Ref. 6) | |
FUNCTION STUDIES | |
Decreased oxygen affinity and Bohr effect; normal cooperativity | |
STABILITY | |
Slightly unstable | |
OCCURRENCE | |
Found in many Chinese families | |
OTHER INFORMATION | |
Quantity in the heterozygote 40-45%; found in combination with Hb E, with alpha-thal, and with betao-thal | |
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REFERENCES |
1. | |
Ranney, H.M., Jacobs, A.S., and Nagel, R.L.: Nature, 213:876, 1967. | |
2. | |
Pootrakul, S., Wasi, P., Na-Nakorn, S., and Dixon, G.H.: J. Med. Assoc. Thai., 54:688, 1971. | |
3. | |
Todd, D., Chan, V., Schneider, R.G., Dozy, A.M., Kan, Y.W., and Chan, T.K.: Br. J. Haematol., 46:557, 1980. | |
4. | |
Sugihara, J., Imamura, T., Imoto, T., and Yanase, T.: Biochim. Biophys. Acta, 669:105, 1981. | |
5. | |
Zeng, Y-T. and Huang, S-Z.: Hemoglobin, 6:61, 1982. | |
6. | |
Chang, J-G., Lee, L-S., Chen, P-H., and Chen, Y-H.: Hemoglobin, 16:123, 1992. | |