Hb Kofu | beta84(EF8)Thr->Ile |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A do not separate at alkaline pH; best separation by IEF using narrow pH-range ampholytes; Hb X moves slightly faster than Hb A | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation ACC->ATC at codon 84 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 73-year-old Japanese male | ||
OTHER INFORMATION | Quantity of Hb X 48.5% |
REFERENCES | |||
1. | Harano, T., Harano, K., Ueda, S., Imai, N., and Kitazumi, T.: Hemoglobin, 10:417, 1986. |