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| ALSO KNOWN AS | |
Tagawa-I | |
| CONTACT | |
External | |
| HEMATOLOGY | |
Normal in the heterozygote | |
| ELECTROPHORESIS | |
Hb X moves to the position of Hb J on paper and starch gel at alkaline but not at acidic pH; Hb X and Hb A do not separate on agar gel; it moves like Hb A on citrate agar | |
| CHROMATOGRAPHY | |
Hb A and Hb X can be separated by cation and anion exchange HPLC | |
| STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing | |
| DNA ANALYSES | |
An AAG->AAT mutation was observed at codon 90 of the alpha2 gene; an AAG->AAC mutation has also been found at codon 90 of the alpha1 gene (Ref. 6) | |
| FUNCTIONAL STUDIES | |
Normal oxygen affinity | |
| STABILITY | |
Stable | |
| OCCURRENCE | |
Found in French, French-Canadian, Australian, and Japanese families | |
| OTHER INFORMATION | |
Quantity in the heterozygote: 24-25% for the alpha2 mutation; 20.5% for the alpha1 mutation | |
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| REFERENCES |
| 1. | |
De Traverse, P.M., Lehmann, H., Coquelet, M.L., Beale, D., and Isaacs, W.A.: Compt. R. Sceanc. Soc. Biol., 160:2270, 1966. | |
| 2. | |
Yanase, T., Hanada, M., Seita, M., Ohya, I., Ohta, Y., Imamura, T., Fujimura, T., Kawasaki, K., and Yamaoka, K.: Jpn. J. Hum. Genet., 13:40, 1968. | |
| 3. | |
Vella, F., Charlesworth, D., Lorkin, P.A., and Lehmann, H.: Can. J. Biochem., 48:908, 1970. | |
| 4. | |
Braconnier, F., Cohen-Solal, M., Schlegel, N., Blouquit, Y., Thillet, J., Cassius de Linval, J., and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 15:333, 1975. | |
| 5. | |
Fleming, P.J., Arnold, B.J., Thompson, E.O.P., Hughes, W.G., and Morgan, L.: Pathology, 10:317, 1978. | |
| 6. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |