Hb Aalborg | beta74(E18)Gly->Arg |
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CONTACT | Internal | ||
HEMATOLOGY | Mild anemia in the heterozygote; Heinz bodies | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X has a mobility between that of Hb F and Hb S | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; peptides were characterized by FAB mass spectrometry | ||
DNA ANALYSES | Not reported; presumed mutation GGC->CGC at codon 74 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in a 7-year-old girl and her father | ||
OTHER INFORMATION | Quantity in the heterozygote ~21% |
REFERENCES | |||
1. | Williamson, D., Nutkins, J., Rosthoj, S., Brennan, S.O., Williams, D.H., and Carrell, R.W.: Hemoglobin, 14:137, 1990. |