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ALSO KNOWN AS | |
Umi; Michigan-I; Michigan-II; Yukuhashi-II; L-Gaslini; Tagawa-II; Kokura; Mugino | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves between Hb S and Hb F on starch gel; moves slightly faster than Hb S on paper; moves slightly ahead of Hb S on cellulose acetate | |
CHROMATOGRAPHY | |
Hb X can be isolated by DEAE-Sephadex and IRC-50 chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GAC->GGC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity | |
STABILITY | |
Slightly unstable | |
OCCURRENCE | |
Found in Ashkenazi Jews and Japanese families | |
OTHER INFORMATION | |
Quantity in heterozygotes 11-17% | |
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REFERENCES |
1. | |
DeVries, A., Joshua, H., Lehmann, H., Hill, R.L., and Fellows, R.E.: Br. J. Haematol., 9:484, 1963. | |
2. | |
Sumida, I.: Jpn. J. Hum. Genet., 19:343, 1975. | |
3. | |
Ohba, Y., Hattori, Y., Matsuoka, M., Miyaji, T., and Fuyuno, K.: Hemoglobin, 6: 69, 1982. | |