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CONTACT | |
alpha1beta1 contact | |
HEMATOLOGY | |
Normal in the heterozygote; inclusion bodies | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X occupies a position like Hb S; excellent separation by IEF; no separation at acidic pH | |
CHROMATOGRAPHY | |
Not reported | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation ATG->AAG at codon 55 | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in four members of an Italian family | |
OTHER INFORMATION | |
Quantity in the heterozygote 34-38% | |