Hb Kanagawa | alpha40(C5)Lys->Met |
---|
CONTACT | Internal | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X separates from Hb A at alkaline pH as a fast-moving variant; excellent separation by IEF | ||
CHROMATOGRAPHY | Hb X and Hb A1c elute together by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Mutation in the alpha2 gene: AAG->ATG at codon 40 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity, decreased heme-heme interaction and 2,3-DPG effect | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 70-year-old Japanese male | ||
OTHER INFORMATION | Quantity in the heterozygote about 15% |
REFERENCES | |||
1. | Miyashita, H., Hashimoto, K., Mohri, H., Ohokubo, T., Harano, T., Harano, K., and Imai, K.: Hemoglobin, 16:1, 1992. |