Hb Villejuif [β123(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 of 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 A2 value. The occurrence of a variant β-globin was rapidly assessed by liquid chromatography mass spectrometric analysis and the abnormal chain purified by high performance liquid chromatography. The amino acid replacement Thr → Ile at β123 was determined by tandem electrospray mass spectrometric analysis of the tryptic digest of the variant β chain. The corresponding DNA mutation was established as C → T at the second position of codon 123 (ACC → ATC) by polymerase chain reaction amplification techniques.
Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy / V., Carbone; A. M., Salzano; L., Pagano; S., Buffardi; C., DE ROSA; Pucci, Pietro. - In: HEMOGLOBIN. - ISSN 0363-0269. - 25:1(2001), pp. 67-78. [10.1081/HEM-100103071]
Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy.
PUCCI, PIETRO
2001
Abstract
Hb Villejuif [β123(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 of 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 A2 value. The occurrence of a variant β-globin was rapidly assessed by liquid chromatography mass spectrometric analysis and the abnormal chain purified by high performance liquid chromatography. The amino acid replacement Thr → Ile at β123 was determined by tandem electrospray mass spectrometric analysis of the tryptic digest of the variant β chain. The corresponding DNA mutation was established as C → T at the second position of codon 123 (ACC → ATC) by polymerase chain reaction amplification techniques.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
