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ALSO KNOWN AS | |
J-Paris-II; Uppsala | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves faster than Hb A on starch gel at alkaline pH | |
CHROMATOGRAPHY | |
Hb X was isolated on Bio-Rex 70 or DEAE-Sephadex columns | |
STRUCTURE STUDIES | |
The tryptic peptides were separated by cation exchange chromatography or by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CAA->GAA; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Mexican, Swedish, Algerian, Indian families, and a Black family in North Africa | |
OTHER INFORMATION | |
Quantity in heterozygotes ~20-25% (without alpha- or beta-thal); quantity in homozygotes 55%; found in combination with beta-thal, with Hb S, and with alpha-thal | |
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REFERENCES |
1. | |
Labie, D. and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 6:426, 1965. | |
2. | |
Jones, R.T., Brimhall, B., and Lisker, R.: Biochim. Biophys. Acta, 154:488, 1968. | |
3. | |
Fessas, Ph., Kaltsoya, A., Loukopoulos, D., and Nilsson, L-O.: Hum. Hered., 19: 152, 1969. | |
4. | |
Trabuchet, G., Pagnier, J., Benabadji, M., and Labie, D.: Hemoglobin, 1:13, 1976. | |
5. | |
Tolstoshen, P., Williamson, R., Eskadale, J., Verdier, G., Godet, J., Nigon, V., Trabuchet, G., and Benabadji, M.: Eur. J. Biochem., 78:161, 1977. | |
6. | |
Trabuchet, G., Benabadji, M., and Labie, D.: Hum. Genet., 42:189, 1978. | |