Hb Tottori | alpha59(E8)Gly->Val |
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CONTACT | Internal | ||
HEMATOLOGY | Mild hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | No separation of Hb X and Hb A at alkaline and acid pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GGC->GTC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Japanese family | ||
OTHER INFORMATION | Quantity in heterozygotes 10-12% |
REFERENCES | |||
1. | Nakatsuji, T., Miwa, S., Ohba, Y., Miyaji, T., Matsumoto, N., and Matsuoka, I.: Hemoglobin, 5:427, 1981. |