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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline pH; Hb X moves like Hb S | |
CHROMATOGRAPHY | |
Hb X was isolated by DEAE-Sephacel chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation GAA->GCA at codon 121 | |
FUNCTION STUDIES | |
Normal | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in members of a Caucasian family in England | |
OTHER INFORMATION | |
Quantity in the heterozygote 36% | |