| Hb Doha | beta1(NA1)Val->Glu; amino terminus extended with a |
|---|---|
| methionyl residue: (-1)Met-(+1)Glu-(+2)His-Leu- |
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X moves faster than Hb A in routine electrophoresis at alkaline pH; Hb X moves like Hb F at acidic pH | ||
| CHROMATOGRAPHY | Hb X and Hb A separate in cation exchange HPLC (Hb X elutes faster) and by DEAE-cellulose chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GTG->GAG at codon beta1; this prevents the removal of the initiator methionine | ||
| FUNCTION STUDIES | Not reported | ||
| STABILITY | Stable | ||
| OCCURRENCE | Found in members of a Qatari family | ||
| OTHER INFORMATION | Quantity in the heterozygote ~50% |
| REFERENCES | |||
| 1. | Kamel, K., El-Najjar, A., Webber, B.B., Chen, S.S., Wilson, J.B., Kutlar, A., and Huisman, T.H.J.: Biochim. Biophys. Acta, 831:257, 1985. | ||