Hb Hradec Kralove (or HK) | beta115(G17)Ala->Asp |
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CONTACT | Internal; alpha1beta1 contact | ||
HEMATOLOGY | Moderate hemolytic anemia in the heterozygote; reticulocytosis | ||
ELECTROPHORESIS | Hb X was not detected by any standard technique or by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Not reported | ||
DNA ANALYSES | A GCC->GAC mutation at codon 115 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Very unstable | ||
OCCURRENCE | Found in a 32-year-old Czech woman and her daughter | ||
OTHER INFORMATION | This is a thalassemic Hb that is most difficult to detect except by DNA sequencing |
REFERENCES | |||
1. | Divoky, V., Svobodova, M., Indrak, K., Chrobak, L., Molchanova, T.P., and Huisman, T.H.J.: Hemoglobin, 17:319, 1993. |