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CONTACT | |
External; alpha1beta1 contact | |
HEMATOLOGY | |
Mild hemolytic anemia with target cells in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves ahead of Hb A | |
CHROMATOGRAPHY | |
Hb X was isolated on a DEAE-Sephadex column | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GCT->GAT at codon 128 | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in three members of a Cuban family, a Chilean newborn, a Chinese family, a family from Benin, and in a Japanese family | |
OTHER INFORMATION | |
Quantity in the heterozygote 36-38%; found in combination with Hb C | |
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REFERENCES |
1. | |
Martinez, G., Lima, F., and Colombo, B.: Biochim. Biophys. Acta, 491:1, 1977. | |
2. | |
Wajcman, H., Baudin-Chich, V., Kister, J., Feo, C., Gombaud-Saintonge, G., Bohn, B., Marden, M., Pagnier, J., Poyart, C., Dodé, C., Galacteros, F., Blouquit, Y., Cynober, T., and Tchernia, G.: Am. J. Hematol., 28:170, 1988. | |
3. | |
Zhu, L.H., Li, M., and Wang, S.J.: Hemoglobin, 12:189, 1988. | |
4. | |
Sciarratta, G.V., Ivaldi, G., and Moruzzi, F.: Hemoglobin, 14:115, 1990. | |
5. | |
Yamagishi, Y., Ikeda, K., Takahara, J., Irino, S., Hasui, H., Fujiwara, T., Kaji, Y., Harano, T., and Harano, K.: Hemoglobin, 17:379, 1993. | |