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ALSO KNOWN AS | |
J-Oxford; N-Cosenza | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X can be separated from Hb A by starch block, cellulose acetate, and starch gel at pH 8.6, but not by agar gel at pH 6.2 | |
CHROMATOGRAPHY | |
Hb X can be isolated from Hb A by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and/or cation exchange chromatography; amino acid analysis; carboxypeptidase A and B digestion; Edman degradation | |
DNA ANALYSES | |
Mutation in the alpha1 gene: GGT->GAT at codon 15 (Ref. 4) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Italian families, American Italians, and an English family | |
OTHER INFORMATION | |
Quantity in heterozygotes 16-23%; found in combination with beta-thal | |
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REFERENCES |
1. | |
Marti, H.R., Pik, C., and Mosimann, P.: Acta Haematol., 32:9, 1964. | |
2. | |
Liddell, J., Brown, D., Beale, D., Lehmann, H., and Huntsman, R.G.: Nature, 204:269, 1964. | |
3. | |
Schiliro, G., Musumeci, S., Pizzarelli, G., Russo, A., Marinucci, M., Bruni, E., and Russo, G.: Blood, 48:639, 1976. | |
4. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |