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CONTACT | |
External | |
HEMATOLOGY | |
Normal in heterozygotes and homozygotes | |
ELECTROPHORESIS | |
Hb X moves between Hb S and Hb F on starch gel and cellulose acetate at alkaline pH; Hb X moves between Hb C and Hb S on citrate agar at acid pH | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by cation as well as anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; reversed phase HPLC; amino acid analysis; sequence analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GAG->GGG at codon 7 | |
FUNCTION STUDIES | |
Normal oxygen affinity, Bohr effect, and cooperativity | |
STABILITY | |
Slightly unstable | |
OCCURRENCE | |
Mainly in Italian families; found in combination with Hb S and beta-thal; the homozygote came from Calabria (Ref. 6) | |
OTHER INFORMATION | |
Quantity in heterozygotes 30-40% | |
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REFERENCES |
1. | |
Schwartz, H.C., Spaet, T.H., Zuelzer, W.W., Neel, J.V., Robinson, A.R., and Kaufman, S.F.: Blood, 12:238, 1957. | |
2. | |
Hill, R.L., Swenson, R.T., and Schwartz, H.C.: J. Biol. Chem., 235:3182, 1960. | |
3, | |
Hill, R.L., Swenson, R.T., and Schwartz, H.C., Blood, 19:573, 1962. | |
4. | |
Musumeci, S., Schiliro, G., Pizzarelli, G., Tentori, L., Marinucci, M., Fontanarosa, P.P., and Russo, G.: Hum. Genet., 52:239, 1979. | |
5. | |
Wilson, J.B., Lam, H., Williams, D., Huisman, T.H.J., Espinosa-Turcott, J., and Ruiz-Reyes, G.: Hemoglobin, 4:95, 1980. | |
6. | |
Brancati, C., Caracciolo, M., Bria, M., Bisconte, M.G., and Qualtieri, A.: Hemoglobin, 13:497, 1989. | |