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Erythrocyte uroporphyrinogen‐I‐synthase activity in β‐thalassaemic patients
Author(s) -
LYBERATOS C.,
LADAS S.,
LADAS I.,
PALIKARIS G.,
LAZANAS M.,
KOUTSIKOS S.
Publication year - 1983
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1983.tb00129.x
Subject(s) - haemolysis , medicine , enzyme , endocrinology , enzyme assay , thalassemia , chemistry , biology , biochemistry , immunology
. The haem pathway enzyme uroporphyrino‐gen‐I‐synthase (UPGS) was assayed in erythrocyte samples from twenty normal, twenty β‐thalassaemia heterozygotic and twenty jS‐thalassaemia homozygotic subjects, after partial separation of the erythrocytes according to their age. UPGS erythrocyte enzyme concentration activity was significantly higher in the young than in the old erythrocytes of normal (66·5 ± 11·8 v. 45 ± 9·5 nmol h ‐1 I ‐1 , mean ± SD, P < 0·001) and β‐thalassaemia heterozygotic subjects (70·1 ± 18·7 v. 49·8 ± 14·5 nmol h ‐1 I ‐1 , P lt; 0·001), but not in patients with homozygous β‐thalassaemia (46·0 ± 12·8 v. 44·1 ± 12·5 nmol h ‐1 I ‐1 , P = 0·65). Furthermore, UPGS enzyme concentration of both young and old erythrocytes of homozygous β‐thalassaemia was significantly lower than that of the young ( P < 0·001) but similar to that of the old ( P > 0·2) erythrocytes of either normal or β‐thalassaemia heterozygotic subjects. Since severe chronic haemolysis due to haemoglobinopathies is associated with increased UPGS enzyme concentration, these results suggest that UPGS activity may be suppressed in homozygous β‐thalassaemia.