Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia

Citation
A. Tagarelli et al., Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia, FEBS LETTER, 466(1), 2000, pp. 139-142
Citations number
19
Categorie Soggetti
Biochemistry & Biophysics
Journal title
FEBS LETTERS
ISSN journal
00145793 → ACNP
Volume
466
Issue
1
Year of publication
2000
Pages
139 - 142
Database
ISI
SICI code
0014-5793(20000121)466:1<139:IOG6DD>2.0.ZU;2-0
Abstract
High frequencies of both thalassemia trait (5.2%) and glucose 6-phosphate d ehydrogenase (G6PD) deficiency for only males (1.3%) have been observed in the Calabrian population. The G6PD activity measurement was carried out on 1239 samples of whole blood from Calabrian subjects of both sexes (age rang e 10-55) by a differential pH-metry technique which was quite suitable to d etermine the G6PD deficiency in mass screenings. The analyzed subjects show ed: only the thalassemia trait; or only the G6PD deficiency; or only the to tal iron serum deficiency; or G6PD deficiency associated with the thalassem ia trait or with the total iron serum deficiency. The G6PD heterozygous sub jects have an enzymatic activity which is masked by both the thalassemia tr ait and the total iron serum deficiency. In a population showing high frequ encies of both thalassemia trait and G6PD deficiency, the comparison of G6P D activity of heterozygous subjects also affected with the thalassemia trai t is more reliable if referred to the enzymatic activity of the carriers of the latter inherited anomaly rather than to G6PD activity of normal subjec ts. (C) 2000 Federation of European Biochemical Societies.