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ALSO KNOWN AS | |
Sinai; Sealy; L-Ferrara | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at both alkaline and acidic pH; moves as Hb S on paper, starch gel, and cellulose acetate; moves between Hb S and Hb C on citrate agar | |
CHROMATOGRAPHY | |
Hb X can be separated from Hb A by both cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic peptides were separated by fingerprinting or by cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
Mutation in the alpha2 gene: GAC->CAC at codon 47 (Ref. 4) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in Ashkenazi Jews and Italian families | |
OTHER INFORMATION | |
Quantity in heterozygotes 14-19% (Jews) | |
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REFERENCES |
1. | |
Halbrecht, I., Isaacs, W.A., Lehmann, H., and Ben-Porat, F.: Israel J. Med. Sci., 3:827, 1967. | |
2. | |
Ostertag, W. and Smith, E.W.: Humangenetik, 6:377, 1968. | |
3. | |
Schneider, R.G., Ueda, S., Alperin, J.B., Brimhall, B., and Jones, R.T.: Am. J. Hum. Genet., 20:151, 1968. | |
4. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |