Hb Tsurumai | beta82(EF6)Lys->Gln |
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CONTACT | 2,3-DPG binding site | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.56-0.58 l/l) | ||
ELECTROPHORESIS | Hb X focuses ahead of Hb A in IEF | ||
CHROMATOGRAPHY | Hb X and Hb A readily separate by anion or cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAG->CAG at codon 82 | ||
FUNCTION STUDIES | Increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 46-year-old Japanese male and his son | ||
OTHER INFORMATION | Quantity in the heterozygote ~49% |
REFERENCES | |||
1. | Ohba, Y., Yamada, H., Takamatsu, S., and Imai, K.: Hemoglobin, 20:141, 1996. |