Hb Kariya | alpha40(C5)Lys->Glu |
---|
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X separates from Hb A as a fast-moving variant at alkaline pH; excellent separation by IEF | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting on paper or by reversed phase HPLC; amino acid analysis; sequencing of the alphaT-5,6 peptide | ||
DNA ANALYSES | Not reported; presumed mutation AAG->GAG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; decreased heme-heme interaction, 2,3-DPG, and Bohr effect | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in a Japanese family; also an American Caucasian family | ||
OTHER INFORMATION | Quantity in heterozygotes 14-19% |
REFERENCES | |||
1. | Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Yamada, H., Seki, M., and Fukui, H.: FEBS Lett., 153:332, 1983. | ||
2. | Nakatsuji, T., Headlee, M.G., and Huisman, T.H.J.: Hemoglobin, 8:401, 1984. |