Hb Columbia Missouri | alpha88(F9)Ala->Val |
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CONTACT | Internal | ||
HEMATOLOGY | Erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | No separation observed by conventional methods or IEF | ||
CHROMATOGRAPHY | No separation observed; analytic HPLC of the globin chains indicated a broadening of the alpha peak; an abnormal alphaX chain was observed by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic peptides of alphaX chain were separated by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCG->GTG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a Caucasian family | ||
OTHER INFORMATION | Quantity of the variant in the heterozygote could not be determined |
REFERENCES | |||
1. | Perry, M.C., Head, C., Fairbanks, V.F., Jones, R.T., Taylor, H., and Proud, V.: Mayo Clin. Proc., 66:5, 1991. |