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CONTACT | |
Heme contact | |
HEMATOLOGY | |
Hemolytic anemia in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves like Hb S in IEF and electrophoresis at alkaline pH; freshly collected blood is required | |
CHROMATOGRAPHY | |
Hb X was isolated on a DEAE-Sephadex column | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; chymotrypsin; sequencing | |
DNA ANALYSES | |
A CTG->CCG mutation at codon 136 of the alpha2 gene (Ref. 3) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Unstable; increased dissociation | |
OCCURRENCE | |
Found in a Caucasian female and several members of a Caucasian family from Alabama | |
OTHER INFORMATION | |
Quantity in heterozygotes most variable; clinical expression quite variable | |
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REFERENCES |
1. | |
Kleihauer, E.F., Reynolds, C.A., Dozy, A.M., Wilson, J.B., Moores, R.R., Berenson, M.P., Wright, C-S., and Huisman, T.H.J.: Biochim. Biophys. Acta, 154:220, 1968. | |
2. | |
Smith, L.L., Barton, B.P., and Huisman, T.H.J.: J. Biol. Chem., 245:2185, 1970. | |
3. | |
Prchal, J.T., Adler, B., Wilson, J.B., Baysal, E., Qin, W-B., Molchanova, T.P., Pobedimskaya, D.D., Kazanetz., E.G., and Huisman, T.H.J.: Hemoglobin, 19:151, 1995. | |