Hb F-Malta-I | Ggamma117(G19)His->Arg |
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ELECTROPHORESIS | Hb FX moves between Hb S and Hb C at alkaline pH | ||
IEF | About the same | ||
CHROMATOGRAPHY | Hb FX can be separated from Hb A and Hb F by cation and anion exchange chromatography | ||
CHAIN SEPARATION | |||
STRUCTURE STUDIES | Tryptic digestion of AE-gammaX chain; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | A CAT->CGT mutation at codon 117 (Ref. 3) | ||
NOTES | Occurs at reasonably high frequency in Maltese and some Italian newborn babies; its occurrence is linked to the beta chain variant Hb Valletta [beta87(F3)Thr->Pro] (Ref. 3) |
REFERENCES | |||
1. | Cauchi, M.N., Clegg, J.B., and Weatherall, D.J.: Nature, 223:311, 1969. | ||
2. | Altay, G., Garver, F., Bannister, W.H., Grech, J.L., Felice, A.E., and Huisman, T.H.J.: Biochem. Genet., 15:915, 1977. | ||
3. | Kutlar, F., Felice, A.E., Grech, J.L., Bannister, W.H., Kutlar, A., Wilson, J.B., Webber, B.B., Hu, H., and Huisman, T.H.J.: Hum. Genet., 86:591, 1991. |