| Hb Sunshine Seth | alpha94(G1)Asp->His |
|---|
| CONTACT | alpha1beta2 contact | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X moves slightly cathodal to Hb S on cellulose acetate; Hb X moves midway between Hb S and Hb C on starch gel at alkaline pH; excellent separation by IEF | ||
| CHROMATOGRAPHY | Hb A and Hb X can be isolated by cation and anion exchange chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
| DNA ANALYSES | A GAC->CAC mutation at codon 94 of the alpha2 gene (Ref. 2) | ||
| FUNCTIONAL STUDIES | Not reported | ||
| STABILITY | Mildly unstable | ||
| OCCURRENCE | Found in a few Caucasian families | ||
| OTHER INFORMATION | Quantity in heterozygotes 20-25% |
| REFERENCES | |||
| 1. | Schroeder, W.A., Shelton, J.B., Shelton, J.R., and Powars, D.: Hemoglobin, 3:145, 1979. | ||
| 2. | Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | ||