Hb Owari | alpha121(H4)Val->Met |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X focuses between Hb A and Hb F on IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Hb X was isolated by preparative IEF; alphaA and alphaX were separated by CM-cellulose chromatography; fingerprinting of the soluble peptides and of chymotryptic peptides of the soluble core; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTG->ATG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in several Japanese families | ||
OTHER INFORMATION | Quantity in the heterozygote 12.7-19% |
REFERENCES | |||
1. | Harano, T., Harano, K., and Ueda, S.: Hemoglobin, 10:127, 1986. |