Hb Nouakchott | alpha114(GH2)Pro->Leu |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb F on IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | The alphaA and alphaX chains can be separated on an analytical Aquapore RP300 column (elution with isopropanol); tryptic peptides separated by reversed phase HPLC; amino acid analysis; S. aureus V8 protease digestion of peptide alphaXT-12B; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CCC->CTC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in three families from Northwest Africa | ||
OTHER INFORMATION | Quantity in the heterozygote estimated at ~25%; high hydrophobicity of the alphaX chain |
REFERENCES | |||
1. | Wajcman, H., Delaunay, J., Francina, A., Rosa, J., and Galacteros, F.: Biochim. Biophys. Acta, 998:25, 1989. |