Hb Catonsville | Glu- inserted between |
---|---|
alpha37(C2)Pro and alpha38(C3)Thr |
HEMATOLOGY | Mild erythrocytosis; reticulocytosis; hemolytic episodes | ||
ELECTROPHORESIS | Hb X moves faster than Hb A at alkaline pH; at acidic pH Hb X moves between Hb A and Hb F | ||
CHROMATOGRAPHY | Hb X elutes faster than Hb A from a cation exchange HPLC column; no resolution of chains (alphaX and alphaA) by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Insertion of GAA between CCC [codon 37 (= Pro)] and ACC [codon 38 (= Thr)] | ||
FUNCTION STUDIES | Increased oxygen affinity; reduced cooperativity and Bohr effect | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a young child and his father | ||
OTHER INFORMATION | Quantity in the heterozygote 24.2% |
REFERENCES | |||
1. | Moo-Penn, W.F., Swan, D.C., Hine, T.K., Baine, R.M., Jue, D.L., Benson, J.M., Johnson, M.H., Virshup, D.M., and Zinkham, W.H.: J. Biol. Chem., 264:21454, 1989. |