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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH (Hb X moves slightly ahead of Hb S) but not at acidic pH | |
CHROMATOGRAPHY | |
Excellent separation of Hb X and Hb A by cation exchange HPLC and DEAE-cellulose chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; peptides separated by reversed phase HPLC or by fingerprinting; amino acid analysis; chymotryptic digestion; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation GAT->AAT at codon 47 | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Stable | |
OCCURRENCE | |
Found in a Danish, a Sicilian, and a Black family | |
OTHER INFORMATION | |
Quantity in the heterozygote 46-48% | |
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REFERENCES |
1. | |
Sick, K., Beale, D., Irvine, D., Lehmann, H., Goodall, P.T., and MacDougall, S.: Biochim. Biophys. Acta, 140:231, 1967. | |
2. | |
Schiliro, G., Musumeci, S., Russo, A., Marino, S., Russo, G., Marinucci, M., Fontanarosa, P.P., and Tentori, L.: Hemoglobin, 5:195, 1981. | |
3. | |
Chen, S.S., Wilson, J.B., Webber, B.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 9:405, 1985. | |