Hb Tarrant | alpha126(H9)Asp->Asn |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Mild erythrocytosis in the homozygote | ||
ELECTROPHORESIS | Hb X moves between Hb S and Hb F (close to Hb F) at alkaline pH and to the position of Hb S on citrate agar at acidic pH | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-cellulose column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; chymotrypsin; amino peptidase; thermolysin | ||
DNA ANALYSES | Not reported; presumed mutation GAC->AAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; decreased cooperativity; normal Bohr effect | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a few Mexican families | ||
OTHER INFORMATION | Quantity in heterozygotes 20-25%; quantity in homozygotes 50% |
REFERENCES | |||
1. | Moo-Penn, W.F., Jue, D.L., Johnson, M.H., Wilson, S.M., Therrell, B., Jr., and Schmidt, R.M.: Biochim. Biophys. Acta, 490:443, 1977. | ||
2. | Ibarra, B., Vaca, G., Cantu, J.M., Wilson, J.B., Lam, H., Stallings, M., Gravely, M.E., and Huisman, T.H.J.: Hemoglobin, 5:337, 1981. |