| Hb Wien | beta130(H8)Tyr->Asp |
|---|
| 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. | ||