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ALSO KNOWN AS | |
Meilahti; Finlandia | |
CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
Erythrocytosis in the heterozygote | |
ELECTROPHORESIS | |
No separation of Hb X and Hb A observed at alkaline pH | |
CHROMATOGRAPHY | |
No separation observed by cation exchange HPLC; the betaX chain elutes very slowly from a reversed phase HPLC column (slower than the gamma chains) | |
STRUCTURE STUDIES | |
Mass spectrometry; amino acid sequence analysis | |
DNA ANALYSES | |
A CCT->ACT mutation at codon 36 (Ref. 3) | |
FUNCTION STUDIES | |
Increased oxygen affinity | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Found in several Finnish families and in a female of Dutch descent | |
OTHER INFORMATION | |
Quantity in the heterozygote about 30% | |
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REFERENCES |
1. | |
Jeppsson, J-O., Källman, L., Lindgren, G., and Fägerstam, L.G.: J. Chromatogr., 297:31, 1984. | |
2. | |
Jones, R.T., Head, C., Shih, M.F-C., Shih, D.T-B., Dana, B., Jones, M.B., and Koler, R.D.: Hemoglobin, 10:455, 1986. | |
3. | |
Ward, C.M., Fay, K.C., Brennan, J., Lowrey, I., and Blacklock, H.A.: Aust. N.Z. J. Med., 22:390, 1992. | |