Hb Tonosho | alpha110(G17)Ala->Thr |
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CONTACT | Internal | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | IEF reveals an abnormal band focusing along the cathodic edge of Hb A | ||
CHROMATOGRAPHY | Hb X did not separate from Hb A by either cation or anion exchange HPLC | ||
STRUCTURE STUDIES | Separation of tryptic and chymotryptic peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCC->ACC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Slightly increased oxygen affinity | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in a Japanese male and his son | ||
OTHER INFORMATION | Quantity in the heterozygote about 14% |
REFERENCES | |||
1. | Ohba, Y., Fujisawa, K., Imai, K., Leowattana, W., Tani, Y., Ami, M., and Miyaji, T.: Hemoglobin, 14:413, 1990. |