|
|
|
|
CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
Mild erythrocytosis in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at both alkaline and acidic pH; Hb X moves like Hb S or Hb D at high pH, and like Hb F at low pH | |
CHROMATOGRAPHY | |
Hb X was isolated by DEAE-Sephadex chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation TGG->GGG at codon 37 | |
FUNCTION STUDIES | |
Slightly increased oxygen affinity; reduced Bohr effect | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in one adult of unnamed racial or ethnic background | |
OTHER INFORMATION | |
Quantity in the heterozygote 29% | |