Hb Tunis-Bizerte | alpha129(H12)Leu->Pro |
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CONTACT | Heme contact | ||
HEMATOLOGY | No anemia in the heterozygote; marked anemia with microcytosis in the homozygote | ||
ELECTROPHORESIS | No Hb X was detected by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Not reported | ||
DNA ANALYSES | A CTG->CCG mutation at codon 129 of the alpha1 gene | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Tunisian family; the mother is a homozygote and two children are heterozygotes | ||
OTHER INFORMATION | alpha-Thalassemic phenotype |
REFERENCES | |||
1. | Darbellay, R., Mach-Pascual, S., Rose, K., Graf, J., and Beris, Ph.: Br. J. Haema-tol., 90:71, 1995. |