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ALSO KNOWN AS | |
M-Kankakee; M-Oldenburg; M-Sendai | |
CONTACT | |
Heme contact; proximal histidine | |
HEMATOLOGY | |
Cyanosis | |
ELECTROPHORESIS | |
Separation of Hb X and Hb A is possible at alkaline pH; Hb X appears as a grayish-green band; best results are obtained with IEF | |
CHROMATOGRAPHY | |
Can be isolated on columns with different cation or anion exchange material | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
A CAC->TAC mutation at codon 87 of the alpha1 gene (Ref. 15) | |
FUNCTIONAL STUDIES | |
Decreased oxygen affinity; normal Bohr effect between pH values 6.3-7.5 | |
STABILITY | |
Relatively stable | |
OCCURRENCE | |
Found in Japanese, Irish, German, Turkish, Rumanian, Scottish- German, and Black families; the occurrence of this variant in some families is the result of a spontaneous mutation | |
OTHER INFORMATION | |
Quantity in heterozygotes 15-25%; ferriHb (metHb), responsible for the cyanotic appearance of the carrier, already observed at birth; specific spectral changes | |
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REFERENCES |
1. | |
Shibata, S., Tamura, A., Iuchi, I., and Takahashi, H.: Acta Haematol. Jap., 23:96, 1960. | |
2. | |
Heller, P., Weinstein, H.G., Yakulis, V.J., and Rosenthal, I.M.; Nature, 210:1182, 1962. | |
3. | |
Tönz, V.O., Simon, H.A., and Hasselfeld, W.: Schweiz. Med. Wochenschr., 92: 1311, 1962. | |
4. | |
Miyaji, T., Iuchi, I., Shibata, S., Takeda, I., and Tamura, A.: Acta Haematol. Jap., 26:538, 1963. | |
5. | |
Kikuchi, G., Hayashi, N., and Tamura, A.: Biochim. Biophys. Acta, 90:199, 1964. | |
6. | |
Konigsberg, W. and Lehmann, H.: Biochim. Biophys. Acta, 107:266, 1965. | |
7. | |
Jones, R.T., Coleman, R.D., and Heller, P.: J. Biol. Chem., 241:2137, 1966. | |
8. | |
Pik, C. and Tönz, O.: Nature, 210:1182, 1966. | |
9. | |
Bratu, V., Predescu, C., Lehmann, H., and Charlesworth, D.: Rev. Roum. Med. Int., 8:279, 1971. | |
10. | |
Ozsoylu, S.: Acta Haematol., 47:225, 1972. | |
11. | |
Trittelvitz, E., Gersonde, K., and Winterhalter, K.H.: Eur. J. Biochem., 51:33, 1975. | |
12. | |
Steffens, G., Steffens, G., and Buse, G.: Hoppe-Seyler's Z. Physiol. Chem., 358: 35, 1977. | |
13. | |
Hesseling, P.B.: South Afr. Med. J., 56:1008, 1979. | |
14. | |
Mayne, E.E., Elder, G.E., Lappin, T.R.J., and Ferguson, L.A.K.: Hemoglobin, 10: 205, 1986. | |
15. | |
Horst, J., Assum, G., Griese, E.U., Eigel, A., Hampl, W., and Kohne, E., Hum. Genet., 75:53, 1987. | |