Hb Wien | beta130(H8)Tyr->Asp |
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CONTACT | Internal | ||
HEMATOLOGY | Heinz body hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | No separation of Hb X and Hb A by conventional techniques | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TAT->GAT at codon 130 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in an Australian male and his daughter, and in a German male | ||
OTHER INFORMATION | Quantity in the heterozygote ~25% |
REFERENCES | |||
1. | Kleihauer, E. and Betke, K.: Klin. Wschr., 50:907, 1972. | ||
2. | Lorkin, P.A., Pietschmann, H., Braunsteiner, H., and Lehmann, H.: Acta Haematol., 51:351, 1974. |