Hb Alesha | beta67(E11)Val->Met |
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CONTACT | Heme contact | ||
HEMATOLOGY | Inclusion body hemolytic anemia, reticulocytosis; no cyanosis; Heinz bodies; no methemoglobinemia | ||
ELECTROPHORESIS | No separation by standard procedures | ||
CHROMATOGRAPHY | Partial separation of Hb X and Hb A by cation exchange HPLC; no separation of betaX and betaA by reversed phase HPLC | ||
STRUCTURE STUDIES | Not reported; identification through DNA analysis | ||
DNA ANALYSES | A GTG->ATG mutation at codon 67 | ||
FUNCTION STUDIES | Slightly increased auto-oxidation | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a young Russian boy but not in his parents | ||
OTHER INFORMATION | Quantity in the heterozygote 18-25 |
REFERENCES | |||
1. | Molchanova, T.P., Postnikov, Yu.V., Pobedimskaya, D.D., Smetanina, N.S., Moschan, A.A., Kazanetz, E.G., Tokarev, Yu.N., and Huisman, T.H.J.: Hemoglobin, 17:217, 1993. |