Hb Sassari | alpha126(H9)Asp->His |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Mild erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | Hb X moves like Hb F at pH 8.9 and like Hb C on citrate agar at pH 6.1; it moves between Hb F and Hb G-Philadelphia on IEF | ||
CHROMATOGRAPHY | Hb X and Hb A separate by anion and cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; oxidation with performic acid; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAC->CAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a family living in Northern Sardinia | ||
OTHER INFORMATION | Quantity in the heterozygote 21-24% |
REFERENCES | |||
1. | Masala, B., Manca, L., Stangoni, A., Cuccuru, G.B., Wilson, J.B., Webber, B.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 11:373, 1987. |