Hb Yoshizuka | beta108(G10)Asn->Asp |
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CONTACT | Central cavity; alpha1beta1 contact | ||
HEMATOLOGY | Slight anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A | ||
CHROMATOGRAPHY | Hb X can be separated by DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAC->GAC at codon 108 | ||
FUNCTION STUDIES | Decreased oxygen affinity; normal cooperativity | ||
STABILITY | Stable | ||
OCCURRENCE | Found in several members of a Japanese family | ||
OTHER INFORMATION | Quantity in heterozygotes ~50% |
REFERENCES | |||
1. | Imamura, T., Fujita, S., Ohta, Y., Hanada, M., and Yanase, T.: J. Clin. Invest., 48: 2341, 1969. |