Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy.
Hemoglobin
; 25(1): 67-78, 2001 Feb.
Article
en En
| MEDLINE
| ID: mdl-11300351
Hb Villejuif [beta123(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 beta-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 beta123 was determined by tandem electrospray mass spectrometric analysis of the tryptic digest of the variant beta 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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Hemoglobin
Año:
2001
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Reino Unido