Hb Sawara | alpha6(A4)Asp->Ala |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slightly slower than Hb F in starch gel electrophoresis at pH 8.6 | ||
CHROMATOGRAPHY | Hb X elutes as a shoulder in front of Hb A on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | tryptic digestion; fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAC->GCC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; normal Bohr effect | ||
STABILITY | Normal | ||
OCCURRENCE | In three members of a Japanese family | ||
OTHER INFORMATION | Quantity in heterozygotes 17% |
REFERENCES | |||
1. | Sumida, I., Ohta, Y., Imamura, T., and Yanase, T.: Biochim. Biophys. Acta, 322: 23, 1973. | ||
2. | Sumida, I., Jpn. J. Hum. Genet., 19:343, 1975. | ||
3. | Sasaki, J., Imamura, T., Sumida, T., Yanase, T., and Ohya, M.: Biochim. Biophys. Acta, 495:183, 1977. |