Hb Rush | beta101(G3)Glu->Gln |
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CONTACT | Internal; central cavity; alpha1beta2 contact | ||
HEMATOLOGY | Mild hemolytic anemia in the heterozygote (PCV 0.35-0.36 l/l) | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH and at acidic pH; at alkaline pH two zones move between Hb A and Hb S | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by fin-gerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAG->CAG at codon 101 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Unstable; forms hybrid Hbs | ||
OCCURRENCE | Found in three individuals in three generations of a Black family in the USA | ||
OTHER INFORMATION | Quantity in the heterozygote 35% |
REFERENCES | |||
1. | Adams, J.G., III, Winter, W.P., Tausk, K., and Heller, P.: Blood, 43:261, 1974. | ||
2. | Shih, D.T-b., Jones, R.T., Imai, K., and Tyuma, I.: J. Biol. Chem., 260:5919, 1985. |