| Hb J-Rajappen | alpha90(FG2)Lys->Thr |
|---|
| CONTACT | External | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X moves to the position of Hb J at alkaline pH | ||
| CHROMATOGRAPHY | Hb A and Hb X separate by cation and anion exchange HPLC | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; reversed phase HPLC; amino acid analysis; DNA sequencing | ||
| DNA ANALYSES | An AAG->ACG mutation at codon 90 in the alpha1-globin gene (Ref. 2) | ||
| FUNCTIONAL STUDIES | Not reported | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in members of Indian families | ||
| OTHER INFORMATION | Quantity in the heterozygote 19.5-20.5% (Ref. 2) |
| REFERENCES | |||
| 1. | Hyde, R.D., Kinderlerer, J.L., Lehmann, H., and Hall, M.D.: Biochim. Biophys. Acta, 243: 515, 1971. | ||
| 2. | Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | ||