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ALSO KNOWN AS | |
M-Osaka; M-Gothenburg; M-Kiskunhalas; M-Norin | |
CONTACT | |
Distal histidine; heme contact | |
HEMATOLOGY | |
Cyanosis in the heterozygote; normal hematology | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline and acidic pH; Hb X moves slower than Hb A on agar gel and moves as Hb A on paper and starch gel; best separation by IEF | |
CHROMATOGRAPHY | |
Hb X was isolated on an Amberlite CG-50 column | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CAC->TAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Decreased oxygen affinity; no Bohr effect; decreased cooperativity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in German, Swedish, Dutch, Hungarian, and Japanese families | |
OTHER INFORMATION | |
Quantity in heterozygotes 20-30% | |
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REFERENCES |
1. | |
Gerald, P.S. and Efron, M.L.: Proc. Natl. Acad. Sci. USA, 47:1758, 1961. | |
2. | |
Pulsinelli, P.D., Perutz, M.F., and Nagel, R.L.: Proc. Natl. Acad. Sci. USA, 70: 3870, 1973. | |
3. | |
Nishikura, K., Sugita, Y., Nagai, M., and Yoneyama, Y.: Nature, 254:727, 1975. | |
4. | |
Takahashi, S., Lin, A.K-L.C., and Ho, C.: Biochemistry, 19:5196, 1980. | |