| Hb Ypsilanti (Ypsi) | beta99(G1)Asp->Tyr |
|---|
| CONTACT | Internal; alpha1beta2 contact | ||
| HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.46-0.63 l/l) | ||
| ELECTROPHORESIS | Two components are present at alkaline pH: one moves in the position of Hb F, and the other moves between Hb A and Hb F | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | No details provided | ||
| DNA ANALYSES | Not reported; presumed mutation GAT->TAT at codon 99 | ||
| FUNCTION STUDIES | Increased oxygen affinity | ||
| STABILITY | Polymerization | ||
| OCCURRENCE | Found in 17 members in three generations of a Black family | ||
| OTHER INFORMATION | Quantity in the heterozygote: two components are present, one for 15% and the other for 25% |
| REFERENCES | |||
| 1. | Rucknagel, D.L., Glynn, K.P., and Smith, J.R.: Clin. Res., 15:270, 1967. | ||
| 2. | Glynn, K.P., Penner, J.A., Smith, J.R., and Rucknagel, D.L.: Ann. Int. Med., 69: 769, 1968. | ||