Hb Saverne | beta143 (-A); abnormal C-terminal sequence: |
---|---|
(143)PRO-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- | |
Asn-Phe-(156)Tyr-COOH (most likely sequence) |
HEMATOLOGY | Heinz body hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X moves faster than Hb A in IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed frameshift at codon beta143 (-A) | ||
FUNCTION STUDIES | High oxygen affinity with low cooperativity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a French female | ||
OTHER INFORMATION | Quantity in the heterozygote 35% |
REFERENCES | |||
1. | Delanoe-Garin, J., Blouquit, Y., Arous, N., Kister, J., Poyart, C., North, M.L., Bardakdjian, J., Lacombe, C., Rosa, J., and Galacteros, F.: Hemoglobin, 12:337, 1988. |