Hb Belfast | beta15(A12)Trp->Arg |
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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. |