Hb Koriyama | Leu-His-Cys-Asp-Lys- inserted between |
---|---|
beta95(FG2)Lys and beta96(FG3)Leu |
HEMATOLOGY | Severe chronic hemolytic anemia; blood transfusion dependent; splenectomized; reticulocytosis | ||
ELECTROPHORESIS | Minor band (1.5%) near Hb A in cellulose acetate electrophoresis; a minor band near Hb F in IEF; data not very reproducible | ||
CHROMATOGRAPHY | Minor betaX chain elutes behind betaA in CM-cellulose chromatography (reticulocytes incubated with 3H-leucine; betaX identified as a minor zone with high activity) | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain (radioactive); separation of peptides by reversed phase HPLC; amino acid analysis; radio sequencing | ||
DNA ANALYSES | Not reported; frameshift mutagenesis is suggested | ||
FUNCTION STUDIES | Not possible | ||
STABILITY | Severely unstable | ||
OCCURRENCE | Found in a Japanese girl, but her parents are normal | ||
OTHER INFORMATION | The insertion is identical to the deletion seen in Hb Gun Hill; it is referred to as the anti-Gun Hill insertion |
REFERENCES | |||
1. | Kawata, R., Ohba, Y., Yamamoto, K., Miyaji, T., Makita, R., Ohga, K., Watanabe, S., and Miwa, S.: Hemoglobin, 12:311, 1988 |