| Hb Toyama | alpha136(H19)Leu->Arg |
|---|
| CONTACT | Heme contact | ||
| HEMATOLOGY | Congenital Heinz body anemia in the heterozygote | ||
| ELECTROPHORESIS | No abnormality was noted at alkaline pH; Hb X is so unstable that it is difficult to detect | ||
| CHROMATOGRAPHY | Hb X can be isolated by anion exchange HPLC | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation CTG->CGG; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Not reported | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in three members of a Japanese family | ||
| OTHER INFORMATION | Quantity in heterozygotes is low because of its instability |
| REFERENCES | |||
| 1. | Ohba, Y., Yamamoto, K., Hattori, Y., Kawata, R., and Miyaji, T.: Hemoglobin, 11: 539, 1987. | ||