Hb St. Francis | beta121(GH4)Glu->Gly |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S or Hb D-Los Angeles | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequence analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAA->GGA at codon 121 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 60-year-old Caucasian female | ||
OTHER INFORMATION | Quantity in the heterozygote 39% |
REFERENCES | |||
1. | Abourzik, N.N., Conlon, M., Zordon, G., Hine, T.K., Johnson, M.H., Jue, D.L., and Moo-Penn, W.F.: Hemoglobin, 15:115, 1991. |