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ALSO KNOWN AS | |
Long Island-Marseille | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
No separation at alkaline pH; Hb X moves cathodal to Hb A in citrate agar electrophoresis at pH 6.0 | |
CHROMATOGRAPHY | |
Hb X elutes faster than Hb A from a cation exchange column; the betaX and betaA chains separate in reversed phase HPLC (elution order: betaA, betaX, alpha) | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation CAC->CCC at codon beta2; this prevents the removal of the initiator methionine | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Not reported | |
OCCURRENCE | |
Found in a French, an American, and an Australian family (two families are known to be of Maltese origin) | |
OTHER INFORMATION | |
Quantity in the heterozygote ~45% | |
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REFERENCES |
1. | |
Blouquit, Y., Arous, N., Lena, D., Delanoe-Garin, J., Lacombe, C., Bardakdjian, J., Vovan, L., Orsini, A., Rosa, J., and Galacteros, F.: FEBS Lett., 178:315, 1984. | |
2. | |
Barwick, R.C., Jones, R.T., Head, C.G., Shih, M.F-C., Prchal, J.T., and Shih, D.T-B.: Proc. Natl. Acad. Sci. USA, 82:4602, 1985. | |
3. | |
Boi, S., Hendy, J., Goodall, I., Gilbert, A., Fleming, P., and Hughes, W.G.: Hemo-globin, 13:515, 1989. | |