| Hb Thionville | alpha1(NA1)Val->Glu; amino terminus extended with a |
|---|---|
| methionyl residue: (-1)Met-(+1)Glu-(+2)Leu-Ser- |
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X moves faster than Hb A in IEF | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion of the alpha chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GTG->GAG at codon alpha1 (alpha2 or alpha1); this prevents the removal of the initiator methionine | ||
| FUNCTION STUDIES | Not reported | ||
| STABILITY | Not reported | ||
| OCCURRENCE | Found in a 78-year-old diabetic patient | ||
| OTHER INFORMATION | Quantity in the heterozygote 21% |
| REFERENCES | |||
| 1. | Vasseur, C., Guillemin, C., Galacteros, F., and Wajcman, H.: Blood, 76:78a (Suppl. 1), 1990. | ||