Hb Thionville | alpha1(NA1)Val->Glu; amino terminus extended with a |
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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. |