Hb Alzette | beta104(G6)Arg->Lys |
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CONTACT | Central cavity | ||
HEMATOLOGY | Normal in the heterozygote; mild microcytosis | ||
ELECTROPHORESIS | No separation by routine methodology | ||
CHROMATOGRAPHY | The variant was found by cation exchange HPLC; no other information available | ||
STRUCTURE STUDIES | Electrospray mass spectrometry; tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AGG->AAG at codon 104 | ||
FUNCTION STUDIES | Normal oxygen affinity | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a teenager from Luxembourg | ||
OTHER INFORMATION | Present for 35% in the heterozygote |
REFERENCES | |||
1. | Kister, J., Papassotiriou, I., Groff, P., Kalmes, G., Promé, D., and Wajcman, H.: Abstract 46, Nouv. Rev. Fr. d'Hematol., 38:26, 1996. |