Hb Ube-2 | alpha68(E17)Asn->Asp |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; it moves ahead of Hb A on agar gel | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AAC->GAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a few Japanese families | ||
OTHER INFORMATION | Quantity in heterozygotes 22-23% |
REFERENCES | |||
1. | Miyaji, T., Iuchi, I., Yamamoto, K., Ohba, Y., and Shibata, S.: Clin. Chim. Acta, 16:1967. | ||
2. | Imai, K., Morimoto, H., Kotani, M., Shibata, S., Miyaji, T., and Masutomo, K.: Biochim. Biophys. Acta, 200:197, 1970. | ||
3. | Iuchi, I., Hidaka, K., Shimasaki, S., and Mizuta, W.: Kawasaki Med. J., 10(1):21, 1984. |