Hb Gavello | beta47(CD6)Asp->Gly |
---|
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves as Hb S | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; fingerprinting; amino acid analysis; chymotryptic digestion | ||
DNA ANALYSES | Not reported; presumed mutation GAT->GGT at codon 47 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 79-year-old female of North Italian origin | ||
OTHER INFORMATION | Quantity in the heterozygote 42% |
REFERENCES | |||
1. | Marinucci, M., Mavilio, F., Tentori, L., and Alberti, R.: Hemoglobin, 1:771, 1977. |