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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
IEF reveals a fast-moving abnormal band | |
CHROMATOGRAPHY | |
Hb X separates from Hb A by cation exchange chromatography; the separation is incomplete on a DEAE-cellulose column | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting on filter paper or by reversed phase HPLC; amino acid analysis | |
DNA ANALYSES | |
Mutation in the alpha2 gene: GAG->GAC at codon 27 (Ref. 4) | |
FUNCTIONAL STUDIES | |
Normal | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in a Japanese male; in a woman from French Guyana (of Chinese-Black descent), and in three Chinese families from Macao | |
OTHER INFORMATION | |
Quantity in heterozygotes 13-14% | |
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REFERENCES |
1. | |
Harano, T., Harano, K., Imai, N., Ueda, S., and Seki, M.: Hemoglobin, 12:61, 1988. | |
2. | |
Merault, G., Keclard, L., Desfontaines, L., Saint-Martin, C., Blouquit, Y., Rosa, J., and Galacteros, F.: Hemoglobin, 13:397, 1989. | |
3. | |
Zhao, W., Wilson, J.B., Webber, B.B., Kutlar, A., Tamagnini, G.P., Kuam, B., and Huisman, T.H.J.: Hemoglobin, 14:627, 1990. | |
4. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |