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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves just ahead of Hb S at alkaline pH; moves with Hb A on citrate agar at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation GAC->AAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in a few English families in England and Canada | |
OTHER INFORMATION | |
Quantity in heterozygotes 18-23% | |
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REFERENCES |
1. | |
Huntsman, R.G., Hall, M., Lehmann, H., and Sukumaran, P.K.: Br. Med. J., i:720, 1963. | |
2. | |
Lorkin, P.A., Huntsman, R.G., Ager, J.A.M., Lehmann, H., Vella, F., and Darbre, P.D.: Biochim. Biophys. Acta, 379:22, 1975. | |
3. | |
Cohen-Solal, M., Manasse, B., Thillet, J., and Rosa, J.: FEBS Lett., 50:163, 1975. | |