|
|
|
|
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH (Hb X moves in the position of Hb S) but not at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by both cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting or by cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CAC->CGC at codon 117 | |
FUNCTION STUDIES | |
Normal | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in several Black families | |
OTHER INFORMATION | |
Quantity in heterozygotes 45-50%; found in combination with Hb S, with Hb C, and with beta-thal | |
|
|
|
|
REFERENCES |
1. | |
Dherte, P., Lehmann, H., and Vandepitte, J.: Nature, 184:1133, 1959. | |
2. | |
Silvestroni, E., Bianco, I., and Brancati, C.: Nature, 191:292, 1961. | |
3. | |
Schneider, R.G., Alperin, J.B., Brimhall, B., and Jones, R.T.: J. Lab. Clin. Med., 73:616, 1969. | |
4. | |
Di Iorio, E.E., Winterhalter, K.H., Wilson, K., Rosenmund, A., and Marti, H.R.: Blut, 31:61, 1975. | |
5. | |
Huisman, T.H.J.: FEBS Lett., 94:68, 1978. | |