Hb Ypsilanti (Ypsi) | beta99(G1)Asp->Tyr |
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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. |