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| CONTACT | |
Central cavity | |
| HEMATOLOGY | |
Normal in the heterozygote | |
| ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline pH; Hb X moves slightly faster than Hb A; best separation by IEF | |
| CHROMATOGRAPHY | |
Hb X and Hb A separate in cation and anion exchange HPLC | |
| STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; separation of peptides by chromatography or by fingerprinting; amino acid analysis | |
| DNA ANALYSES | |
Not reported; presumed mutation GGT->GAT at codon 136 | |
| FUNCTION STUDIES | |
Decreased oxygen affinity and cooperativity; normal Bohr effect | |
| STABILITY | |
Mildly unstable | |
| OCCURRENCE | |
Found in several Black families, in Japanese, Thai, Laotian, and Cuban families | |
| OTHER INFORMATION | |
Quantity in the heterozygote 40-50%; found in combination with Hb S, Hb E, alpha-thal-2 (-3.7 kb), and with beta-thal | |
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| REFERENCES |
| 1. | |
Minnich, V., Hill, R.J., Khuri, P.D., and Anderson, M.E.: Blood, 25:830, 1965. | |
| 2. | |
Moo-Penn, W., Jue, D., George, B., Ramsey, N., and Schmidt, R.M.: Am. J. Clin. Pathol., 63:87, 1975. | |
| 3. | |
Hubbard, M., Wilson, J.B., Wrightstone, R.N., Efremov, G.D., and Huisman, T.H.J.: Acta Haematol., 54:53, 1975. | |
| 4. | |
Steinberg, M.H., Lovell, W.J., Wells, S., Coleman, M., Dreiling, B.J., and Adams, J.G.: J. Lab. Clin. Med., 88:125, 1976. | |
| 5. | |
Charache, S., Achuff, S., Winslow, R., and Kazazian, H.: J. Lab. Clin. Med., 93:316, 1979. | |
| 6. | |
Harano, T., Harano, K., Ueda, S., Shibata, S., Imai, K., and Nakai, T.: Hemoglobin, 7:263, 1983. | |
| 7. | |
Martinez, G. and Colombo, B.: Hemoglobin, 8:519, 1984. | |
| 8. | |
Pillers, D.M., Jones, M., Head, C., and Jones, R.T.: Hemoglobin, 16:81, 1992. | |
| 9. | |
Rahbar, S., Nozari, G., Asmerom, Y., Martin, P.A., Yeh, C.H., and Lee, T.D.: Hemoglobin, 16:421, 1992. | |