Hb Headington | beta72(E16)Ser->Arg |
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CONTACT | External | ||
HEMATOLOGY | Mild erythrocytosis in the proband who also had a (deltabeta)o-thal | ||
ELECTROPHORESIS | Hb X occupies the position of Hb S at alkaline pH; excellent separation by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Not reported; identification was by DNA analysis | ||
DNA ANALYSES | An AGT->AGA mutation at codon 72 | ||
FUNCTION STUDIES | Increase in oxygen affinity; slight decrease in cooperativity; Bohr effect normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in an Asian Indian family | ||
OTHER INFORMATION | Occurred in combination with a (deltabeta)o-thal |
REFERENCES | |||
1. | Rochette, J., Barnetson, R., Kiger, L., Kister, J., Littlewood, T.J., Webster, R., Poyart, C., and Thein, S.L.: Br. J. Haematol., 86:118, 1994. |