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NOTE: | |
An Ala->Glu change would require a GCA or GCG mutation to GAA or GAG. The codons GCA and GCG do not occur in the beta-globin gene; GCA is in the gamma gene and GCG in the alpha gene | |
CONTACT | |
Central cavity | |
HEMATOLOGY | |
Chronic anemia; microcytosis; reticulocytosis | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A | |
CHROMATOGRAPHY | |
Not reported; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaA, betaX, alpha) | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; analysis of tryptic peptides by reversed phase HPLC; amino acid analysis; FAB mass spectrometry | |
DNA ANALYSES | |
Not reported; presumed mutation GCT->GAT at codon 135 that corresponds to an Ala->Asp replacement | |
FUNCTION STUDIES | |
Decreased oxygen affinity | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a Black female | |
OTHER INFORMATION | |
None | |