Hb F-M-Osaka | Ggamma63(E7)His->Tyr |
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ELECTROPHORESIS | No variant detectable | ||
IEF | No variant detectable | ||
CHROMATOGRAPHY | A broad Hb FX band elutes ahead of Hb A and Hb F on DEAE-cellulose chromatography | ||
CHAIN SEPARATION | GgammaX = 17.5% of total gamma; Ggamma = 40%; Agamma = 42.5% | ||
STRUCTURE STUDIES | Tryptic digestion of GgammaX; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CAT->TAT at codon 63 | ||
NOTES | Found in a Japanese newborn and a Caucasian newborn; variant has a decreased oxygen affinity, increased Bohr effect; babies are cyanotic at birth; methemoglobinemia |
REFERENCES | |||
1. | Hayashi, A., Fujita, T., Fujimura, M., and Titani, K.: Hemoglobin 4:447, 1980. | ||
2. | Glader, B.E., Zwerdling, D., Kutlar, F., Kutlar, A., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 13:769, 1989. |