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ALSO KNOWN AS | |
Kagoshima; Nishik-I; Nishik-II; Nishik-III | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb J on starch gel and cellulose acetate at alkaline pH; moves with Hb A (citrate agar) and ahead of Hb A on paper | |
CHROMATOGRAPHY | |
Hb X can be separated from Hb A by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing of selected peptides | |
DNA ANALYSES | |
Not reported; presumed mutation GGC->GAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Normal oxygen affinity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in English, Italian, Japanese, and Nepali families | |
OTHER INFORMATION | |
Quantity in heterozygotes around 25% | |
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REFERENCES |
1. | |
Ager, J.A.M., Lehmann, H., and Vella, F.: Br. Med. J., ii:539, 1958. | |
2. | |
Baglioni, C.: J. Biol. Chem., 237:69, 1962. | |
3. | |
Imamura, T., Am. J. Hum. Genet., 18:584, 1966. | |
4. | |
Mehrotra, T.N., Gupta, S.C., Sinha, R., Lehmann, H., and Wiltshire, B.G.: Humangenetik, 27:347, 1975. | |