Hb Tatras | alpha7(A5)Lys->Asn |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Electrophoresis at alkaline pH showed a fast-moving Hb like Hb A1c | ||
CHROMATOGRAPHY | A fast-moving Hb component was separated from Hb A by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; the peptides were separated by reversed phase HPLC; peptides alphaT-1 and alphaT-2 combined to form an alphaT-1,2 peptide; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAG->AAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a 72-year-old woman born in Czechoslovakia | ||
OTHER INFORMATION | Quantity in the heterozygote 22% |
REFERENCES | |||
1. | Wajcman, H., Bost, M., Blouquit, Y., Préhu, C., Riou, J., and Galacteros, F.: Hemoglobin, 18:427, 1994. |