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ALSO KNOWN AS | |
G-Taichung; Mahidol; Kurashiki; Asabara | |
CONTACT | |
External | |
HEMATOLOGY | |
Mild thalassemic features in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb S on paper and to the position of Hb G on starch gel and cellulose acetate at alkaline pH; excellent separation by IEF | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
A GAC->CAC mutation at codon 74 in the alpha1 gene of an alpha-thal-2 chromosome (-4.2 kb) (Ref. 9) | |
FUNCTIONAL STUDIES | |
Normal oxygen affinity, Bohr effect, and cooperativity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Chinese, Thai, and Japanese families | |
OTHER INFORMATION | |
The Hb Q-Thailand mutation occurs in the alpha1-globin gene on a chromosome with the alpha2-globin gene deleted; the quantity in the heterozygote is therefore a high 30-35% | |
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REFERENCES |
1. | |
Blackwell, R.Q. and Liu, C-S.: Biochim. Biophys. Acta, 200:70, 1970. | |
2. | |
Pootrakul, S. and Dixon, G.H.: Can. J. Biochem., 48:1066, 1970. | |
3. | |
Lorkin, P.A., Charlesworth, D., Lehmann, H., Rahbar, S., Tuchinda, S., and Lie-Injo, L.E.: Br. J. Haematol., 19:117, 1970. | |
4. | |
Iuchi, I., Hidaka, K., Ueda, S., Shibata, S., and Kusumoto, T.: Hemoglobin, 2:79, 1978. | |
5. | |
Lie-Injo, L.E., Dozy, A.M., Kan, Y.W., Lopes, M., and Todd, D.: Blood, 54:1407, 1979. | |
6. | |
Higgs, D.R., Hunt, D.M., Drysdale, H.C., Clegg, J.B., Pressley, L., and Weatherall, D.J.: Br. J. Haematol., 46:387, 1980. | |
7. | |
Beris, P., Huber, P., Miescher, P.A., Wilson, J.B., Kutlar, A., Chen, S.S., and Huisman, T.H.J.: Am. J. Hematol., 24:395, 1987. | |
8. | |
Chen, S-S., Yang, K-K., Jia, P-C., Liang, C-C., Zhang, M-J., Huang, M-X., Zhang, G-L., Wen, P-C., and Du, S-K.: Hemoglobin, 16:409, 1992. | |
9. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |