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CONTACT | |
External | |
HEMATOLOGY | |
Normal in heterozygotes | |
ELECTROPHORESIS | |
Hb X moves as Hb S on starch block, paper, starch gel, and cellulose acetate at alkaline pH; Hb X moves with Hb A on citrate agar at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation AAC->AAG; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Black families from the Congo, Uganda, Zaire, Texas (USA), and Alsace (France) | |
OTHER INFORMATION | |
Quantity in heterozygotes ~24%; in combination with Hb S it forms a hybrid Hb (alpha2St-IIbeta2S) which in contrast to normal Hb S (alpha2beta2S) does not readily sickle or form fibers (Ref. 5) | |
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REFERENCES |
1. | |
Dherte, P., Vandepitte, J., Ager, J.A.M., and Lehmann, H.: Br. Med. J., ii:282, 1959. | |
2. | |
Schneider, R.G. and Haggard, M.E.: Br. Med. J., ii:285, 1959. | |
3. | |
Van Ros, G., Beale, D., and Lehmann, H.: Br. Med. J., 4:92, 1968. | |
4. | |
North, M.L., Darbre, P.D., Lehmann, H., and Juif, J.G.: Acta Haematol., 53:56, 1975. | |
5. | |
Rhoda, M-D., Martin, J., Blouquit, Y., Garel, M-C., Edelstein, S.J., and Rosa, J.: Biochem. Biophys. Res. Commun., 111:8, 1983. | |