Hb Anamosa | alpha111(G18)Ala->Val |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X was detected by IEF where it focused just ahead of Hb A | ||
CHROMATOGRAPHY | Hb X and Hb A can be separated by cation exchange HPLC | ||
STRUCTURE STUDIES | Identification by DNA analysis only | ||
DNA ANALYSES | A GCC->GTC mutation at codon 111 of the alpha2 gene | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Stable | ||
OCCURRENCE | Discovered in a Caucasian baby and his father | ||
OTHER INFORMATION | Quantity in the heterozygote ~20% |
REFERENCES | |||
1. | Kazanetz, E.G., Leonova, J.Ye., Wilson, J.B., McMillan, S.K., Walbrecht, M., de Pablos Gallego, J.Ma., and Huisman, T.H.J.: Hemoglobin, 19:1, 1995. |