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ALSO KNOWN AS | |
M-Emory; M-Kurume; M-Hida; M-Radom; M-Arthus; M-Chicago; Leipzig; Hörlein-Weber; Novi Sad; M-Erlangen | |
CONTACT | |
External; surface crevice; "distal histidine" | |
HEMATOLOGY | |
Compensated hemolytic anemia in the heterozygote; ferriHb; cyanosis | |
ELECTROPHORESIS | |
Hb X and Hb A have about the same mobility at alkaline pH; when converted to metHb, Hb X moves faster than Hb A at pH 7.0 | |
CHROMATOGRAPHY | |
Hb X was isolated on Amberlite IRC-50 (elutes after Hb A); DEAE-Sephadex (incompletely separated from Hb A2) | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CAT->TAT at codon 63 | |
FUNCTION STUDIES | |
Oxygen affinity reported as normal or decreased by different investigators | |
STABILITY | |
Unstable; dissociates into dimers at pH 10.1 | |
OCCURRENCE | |
Found in families from Georgia, USA, Japan, England, Denmark, Norway, Yugoslavia, Canada, Poland, etc. | |
OTHER INFORMATION | |
The variant often occurs as a de novo mutation; quantity in heterozygotes 24-27%; absorption maxima 490-598 nm, which is specific for this variant | |
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REFERENCES |
1. | |
Gerald, P.S. and Efron, M.L.: Proc. Natl. Acad. Sci. USA, 47:1758, 1961. | |
2. | |
Shibata, S., Miyaji, T., Iuchi, I., and Ueda, S.: Acta Haematol. Jpn., 24:486, 1961. | |
3. | |
Josephson, A.M., Weinstein, H.G., Yakulis, V.J., Singer, L., and Heller, P.: J. Lab. Clin. Med., 59:918, 1962. | |