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ALSO KNOWN AS | |
Tokuchi; Motown | |
CONTACT | |
Internal; alpha1beta1 contact | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; at acidic pH Hb X moves close to Hb F | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation CAG->GAG at codon 131 | |
FUNCTION STUDIES | |
Normal oxygen affinity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in several Black families and in a Japanese family | |
OTHER INFORMATION | |
Quantity in the heterozygote 35-46%; found in combination with Hb S and with alpha-thal | |
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REFERENCES |
1. | |
Wade-Cohen, P.T., Yates, A., Bellingham, A.J., and Huehns, E.R.: Nature, 243: 467, 1973. | |
2. | |
Hubbard, M., Wilson, J.B., Wrightstone, R.N., Efremov, G.D., and Huisman, T.H.J.: Acta Haematol., 54:53, 1975. | |
3. | |
Ohba, Y., Miyaji, T., Matsuoka, M., Ueda, S., Iuchi, I., and Shibata, S.: Acta Haematol. Jap., 38:1, 1975. | |