Codrington J F, Kutlar F, Harris H F, Wilson J B, Stoming T A, Huisman T H
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Biochim Biophys Acta. 1989 Sep 21;1009(1):87-9. doi: 10.1016/0167-4781(89)90083-3.
Data are reported for an 85-year-old black make who had an HPFH condition on one chromosome and a suspected 'delta-thalassemia' on the other. Sequence analysis of amplified DNA of an appropriate segment of the delta-globin gene identified a GTG to ATG mutation for codon 98 and thus a Val----Met replacement in the delta chain. This abnormality was confirmed by hybridization of amplified DNA with 32P-labeled synthetic probes and by the amino-acid composition of the isolated tryptic peptide delta T-11. Thus, the 'delta-thalassemia' is caused by the presence of an Hb A2 variant that is considered to be unstable to a similar extent as is Hb Köln, its beta chain counterpart.
