Hb Ozieri | alpha71(E20)Ala->Val |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | This silent variant migrates as a band slightly anodal to Hb A and Hb F by IEF with an ultra narrow pH gradient | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Hb X was characterized by combining FAB mass spectrometry with electrospray spectrometry | ||
DNA ANALYSES | Not reported; presumed mutation GCG->GTG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in several unrelated Sardinian newborn babies and their parents | ||
OTHER INFORMATION | Quantity in adult heterozygotes 27.1 ± 4.8% |
REFERENCES | |||
1. | Ferranti, P., Parlapiano, A., Malorni, A., Pucci, P., Marino, G., Cossu, G., Manca, L., and Masala, B.: Biochim. Biophys. Acta, 1162:203, 1993. |