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CONTACT | |
C-terminus | |
HEMATOLOGY | |
Mild erythrocytosis in the heterozygote | |
ELECTROPHORESIS | |
IEF showed discrete bands of Hb X, Hb A, and Hb A2, in that order | |
CHROMATOGRAPHY | |
Hb X and Hb A separate on a DEAE-cellulose column | |
STRUCTURE STUDIES | |
Tryptic digestion of alphaX chain; separation of peptides; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CGT->TGT; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in a Japanese male | |
OTHER INFORMATION | |
Quantity in the heterozygote 13%; the cysteine residue does not participate in inter- or intra-molecular disulfide formation | |