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CONTACT | |
Surface crevice | |
HEMATOLOGY | |
Normal hematology but Heinz bodies can be seen after incubation for 2 hours with acetylphenylhydrazine | |
ELECTROPHORESIS | |
Hb X moves as Hb S on paper, starch gel, and agar gel at alkaline pH | |
CHROMATOGRAPHY | |
Separation by cation exchange HPLC (Ref. 3) | |
STRUCTURE STUDIES | |
Fingerprinting; amino acid analysis | |
DNA ANALYSES | |
A CTG->CGG mutation at codon 14 (Ref. 3) | |
FUNCTION STUDIES | |
Normal | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Hb Sögn was found in a few Norwegian and American families | |
OTHER INFORMATION | |
Quantity in the heterozygote 29-32%; also found in combination with alpha-thal | |
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REFERENCES |
1. | |
Monn, E., Gaffney, P.J., and Lehmann, H.: Scand. J. Haematol., 5:353, 1968. | |
2. | |
Monn, E. and Bjark, P.: Scand. J. Haematol., 7:455, 1970. | |
3. | |
Miller, D.R., Kazanetz, E.G., Leonova, J.Ye., Smetanina, N.S., and Huisman, T.H.J.: Hemoglobin, in press (1996) | |