Hb Strumica | alpha112(G19)His->Arg |
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ALSO KNOWN AS | Serbia | ||
CONTACT | External | ||
HEMATOLOGY | Nearly normal in the heterozygote; slight hemolysis | ||
ELECTROPHORESIS | Hb X moves to the position of Hb Lepore at alkaline pH | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic and chymotryptic peptides separated by cation exchange chromatography or by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CAC->CGC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a few Serbian, Turkish, and Macedonian families | ||
OTHER INFORMATION | Quantity in heterozygotes 16-17% |
REFERENCES | |||
1. | Niazi, G.A., Efremov, G.D., Nikolov, N., Hunter, E., Jr., and Huisman, T.H.J.: Biochim. Biophys. Acta, 412:181, 1975. | ||
2. | Beksedic, D., Rajevska, T., Lorkin, P.A., and Lehmann, H.: FEBS Lett., 58: 226, 1975. |