Identification of Hb Villejuif [beta 123(H1)Thr -> Ile] in Southern Italy

Wb Villejuif [beta 123(H1)Thr --> Ile] is a silent and asymptomatic variant described in 1989 in an 87-year-old woman of French origin suffering from coincidental polycythemia vera. This paper reports the second observation o f Hb Villejuif in three related subjects from Montesarchio, Southern Italy. All routine techniques for hemoglobin analysis yielded normal results with the exception of a slight increase in the Hb A(2) value. The occurrence of a variant P-globin was rapidly assessed by liquid chromatography mass spec trometric analysis and the abnormal chain purified by high performance liqu id chromatography. The amino acid replacement Thr --> Ile at beta 123 was d etermined by tandem electrospray mass spectrometric analysis of the tryptic digest of the variant beta chain. The corresponding DNA mutation was estab lished as C --> T at the second position of codon 123 (ACC --> ATC) by poly merase chain reaction amplification techniques.