Hb Legnano | alpha141(HC3)Arg->Leu |
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CONTACT | C-terminus | ||
HEMATOLOGY | Erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | Hb X moves ahead of Hb A on cellulose acetate at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CGT->CTT; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; decreased cooperativity and Bohr effect | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in members of an Italian family | ||
OTHER INFORMATION | Quantity in the heterozygote 32-35% |
REFERENCES | |||
1. | Mavilio, F., Marinucci, M., Tentori, L., Fontanarosa, P.P., Rossi, U., and Biagiotti, S.: Hemoglobin, 2:249, 1978. |