Hb Dieppe | beta127(H5)Gln->Arg |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Chronic anemia in the heterozygote; thalassemic; reticulocytosis; no Heinz bodies | ||
ELECTROPHORESIS | No abnormality detected | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Not reported | ||
DNA ANALYSES | A CAG->CGG mutation at codon 127 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Highly unstable | ||
OCCURRENCE | Found in a 31-year-old French female | ||
OTHER INFORMATION | Patient required occasional blood transfusions; she has elevated Hb F (~18%) and an alpha/beta in vitro chain synthesis ratio of 2.1 |
REFERENCES | |||
1. | Girodon, E., Ghanem, N., Vidaud, M., Riou, J., Martin, J., Galactéros, F., and Goossens, M.: Ann. Hematol., 65:188, 1992. |