Hb Beograd | beta121(GH4)Glu->Val |
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ALSO KNOWN AS | D-Camperdown | ||
CONTACT | External | ||
HEMATOLOGY | Normal in heterozygotes | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S; no separation at acidic pH | ||
CHROMATOGRAPHY | Hb X and Hb A separate by cation and anion exchange chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography, reversed phase HPLC, or fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | A GAA->GTA mutation at codon 121 | ||
FUNCTION STUDIES | Normal oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in members of several Yugoslavian families and in a Turkish family | ||
OTHER INFORMATION | Quantity in heterozygotes 26-38%; found in combination with beta-thal and with Hb Strumica [alpha112(G19)His->Arg] |
REFERENCES | |||
1. | Efremov, G.D., Duma, H., Rudivic, R., Rolovic, Z., Wilson, J.B., and Huisman, T.H.J.: Biochim. Biophys. Acta, 328:81, 1973. | ||
2. | Wilkinson, T., Gough, P., Owen, M.C., Carrell, R.W., and Kronenberg, H.: Med. J. Austrl., 2:636, 1974. | ||
3. | Rudivic, R., Efremov, G.D., Juricic, D., Rolovic, A., Ruzdic, I., and Pendix, S.: Acta Haematol., 54:180, 1975. | ||
4. | Wilkinson, T., Carrell, R.W., Brennan, S., Gough, P., Robin, H., and Kronenberg, H.: Pathology, 9:27, 1977. | ||
5. | Aksoy, M., Kutlar, A., Dincol, G., Erdem, S., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 8:417, 1984. |