| Hb Valletta | beta87(F3)Thr->Pro |
|---|
| CONTACT | External | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X was detected by IEF; Hb X moves between Hb S and Hb C | ||
| CHROMATOGRAPHY | The betaX chain elutes ahead of betaA in reversed phase HPLC | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis | ||
| DNA ANALYSES | An ACA->CCA mutation at codon 87 | ||
| FUNCTION STUDIES | Not reported | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in many Maltese newborn babies and their parents, and also in some Italian newborn babies | ||
| OTHER INFORMATION | Ratio of Hb Valletta to Hb A in the newborn is 50:50; the Hb Valletta mutation occurs linked to the Hb F-Malta-I mutation (i.e. CAT->CGT) at codon 117 of the Ggamma gene (the two mutations are 27-28 kb apart) |
| REFERENCES | |||
| 1. | 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. | ||