Hb Mizushi | alpha75(EF4)Asp->Gly |
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CONTACT | External; near central cavity | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slower than Hb A at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAC->GGC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity, Bohr effect, and cooperativity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a Japanese family | ||
OTHER INFORMATION | Quantity in heterozygotes ~14% |
REFERENCES | |||
1. | Iuchi, I., Shimasaki, S., Hidaka, K., Harano, T., Ueda, S., Shibata, S., Mizushima, J., and Kubo, N.: Hemoglobin, 4:209, 1980. |