Hb Montgomery | alpha48(CE6)Leu->Arg |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate by both alkaline and acidic pH; moves between Hb S and Hb F on cellulose acetate; moves as Hb G on starch gel; moves between Hb A and Hb S on citrate agar | ||
CHROMATOGRAPHY | Hb X and Hb A separate by anion exchange chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by cation exchange chromatography or reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Mutation in the alpha2 gene: CTG->CGG at codon 48 (Ref. 4) | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in Black and Chinese families | ||
OTHER INFORMATION | Quantity in heterozygotes 17-20% |
REFERENCES | |||
1. | Brimhall, B., Jones, R.T., Schneider, R.G., Hosty, T.S., Tomlin, G., and Atkins, R.: Biochim. Biophys. Acta, 379:28, 1975. | ||
2. | Huisman, T.H.J., Gravely, M.E., Wilson, J.B., Webber, B., Felice, A.E., and Miller, A.: Am. J. Hematol., 8:139, 1980. | ||
3. | Zeng, Y-T., Huang, S-Z., Dong, Z-Y., Lam, H., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 6:213, 1982. | ||
4. | Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. |