Hb Mosella | alpha111(G18)Ala->Thr |
---|
CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Normal in heterozygotes | ||
ELECTROPHORESIS | Hb X focuses between Hb A and Hb A1c on IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX+alphaA chains; separation of pep-tides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCC->ACC; alpha2 or alpha1 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Observed in a 35-year-old female from Luxembourg and in one of her daughters | ||
OTHER INFORMATION | Quantity of Hb X ~20% |
REFERENCES | |||
1. | Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A.M., Groff, P., Bardakdjian, J., Préhu, C., Riou, J., Godard, C., and Galactèros, F.: Hemoglobin, 19:281, 1995. |