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ALSO KNOWN AS | |
Warsaw | |
CONTACT | |
Heme contact | |
HEMATOLOGY | |
Moderate hemolytic anemia with reticulocytosis; Heinz bodies | |
ELECTROPHORESIS | |
No separation reported | |
CHROMATOGRAPHY | |
No separation by cation or anion exchange chromatography; betaX elutes ahead of betaA in reversed phase HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation TTT->GTT at codon 42 | |
FUNCTION STUDIES | |
Decreased oxygen affinity | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a Japanese male and his daughter, and in a Polish-American family | |
OTHER INFORMATION | |
Quantity in heterozygotes estimated at 42-45% (reversed phase HPLC); metHb formation | |
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REFERENCES |
1. | |
Ogata, K., Ito, T., Kazaki, T., Dan, K., Nomura, T., Nozawa, Y., and Kajita, A.: Hemoglobin, 10:469, 1986. | |
2. | |
Honig, G.R., Telfer, M.C., Rosenblum, B.B., and Vida, L.N.: Am. J. Hematol., 32:36, 1989. | |
3. | |
Honig, G.R., Vida, L.N., Rosenblum, B.B., Perutz, M.F., and Fermi, G.: J. Biol. Chem., 265:126, 1990. | |