Hb Doha | beta1(NA1)Val->Glu; amino terminus extended with a |
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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. |