| Hb Belfast | beta15(A12)Trp->Arg |
|---|
| CONTACT | Internal; A-E helices spacer | ||
| HEMATOLOGY | Approximately normal in the heterozygote; Heinz bodies can be seen | ||
| ELECTROPHORESIS | Hb X moves as Hb S on cellulose acetate at alkaline pH, and like Hb A on citrate agar at acidic pH | ||
| CHROMATOGRAPHY | DEAE-Sephadex was used to isolate Hb X | ||
| STRUCTURE STUDIES | Fingerprinting; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation TGG->AGG or CGG at codon 15 | ||
| FUNCTION STUDIES | Increased oxygen affinity | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in a few Irish and French patients | ||
| OTHER INFORMATION | Quantity in heterozygotes 27.5-29% |
| REFERENCES | |||
| 1. | Kennedy, C.C., Blundell, G., Lorkin, P.A., Lang, A., and Lehmann, H.: Br. Med. J., 4:324, 1974. | ||
| 2. | Gacon, G., Wajcman, H., Labie, D., Varet, B., and Christoforov, G.: Acta Haematol., 55:313, 1976. | ||