Hb Toyama | alpha136(H19)Leu->Arg |
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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. |