Hb Sunshine Seth | alpha94(G1)Asp->His |
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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. |