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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves slightly ahead of Hb A at alkaline pH and like Hb A on citrate agar | |
CHROMATOGRAPHY | |
Hb X was isolated by DEAE-Sephadex chromatography | |
STRUCTURE STUDIES | |
Fingerprinting of tryptic and chymotryptic peptides; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation CAC->GAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Normal in whole blood; increased oxygen affinity in isolated Hb X; decreased heme-heme interaction; normal Bohr effect | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a few Caucasian families | |
OTHER INFORMATION | |
Quantity in heterozygotes 17-27%; found in association with Hb S | |
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REFERENCES |
1. | |
Charache, S. and Ostertag, W.: Blood, 36:852, 1970. | |
2. | |
Charache, S., Ostertag, W., and von Ehrenstein, G.: Nature, 234:248, 1971. | |
3. | |
Clegg, J.B. and Charache, S.: Hemoglobin, 2:85, 1978. | |