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ALSO KNOWN AS | |
Hyogo | |
CONTACT | |
Internal | |
HEMATOLOGY | |
Congenital hemolytic anemia associated with Heinz bodies | |
ELECTROPHORESIS | |
No separation from Hb A | |
CHROMATOGRAPHY | |
No separation from Hb A; the betaX and betaA chains can be separated by reversed phase HPLC | |
STRUCTURE STUDIES | |
Isolation of the betaX chain by pCMB; tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CTG->CCG at codon 28 | |
FUNCTION STUDIES | |
Increased oxygen affinity; decreased cooperativity | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a few families from Europe, East India, Kenya, Cuba, Libya, and Japan | |
OTHER INFORMATION | |
Quantity in the heterozygote not accurately determined | |
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REFERENCES |
1. | |
Sansone, G., Carrell, R.W., and Lehmann, H.: Nature, 214:877, 1967. | |
2. | |
Cohen-Solal, M. and Labie, D.: Biochim. Biophys. Acta, 295:67, 1973. | |
3. | |
Hopmeier, P., Binder, C., Gadner, H., and Fischer, M.: Acta Haematol., 83:39, 1990. | |