Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.

This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent beta-thalassaemia to that of a mild beta-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a beta-thalassaemia mutation. Compound heterozygotes for the IVSII nt844 (C-->G) mutation and a severe beta-thalassaemia mutation have the phenotype of thalassaemia intermedia. This paper indicates that the presence of borderline red blood cell indices or HbA2 values should make one suspect the presence of a very mild or silent beta-thalassaemia.

[Voluntary interruption of pregnancy using the Karman method and T-lymphocyte dependent immunity]. / I.V.G. con il metodo Karman ed immunità T-linfocito dipendente.

The lymphocyte subsets T4 and T8 in 25 women in the first trimester before and after voluntary interruption of pregnancy after Karman, have been evaluated. Our results demonstrated no significant change in the composition of T-subsets in any of the patients, so we can think this procedure does not modify the mechanisms of the T-lymphocyte dependent immunity.

Effect of lithium carbonate on monocyte to macrophage maturation in cancer patients.

A decrease in the maturation process of monocytes into macrophage is observed in cancer patients. In this study the Authors examined: the maturation pattern of monocytes into macrophages in 14 patients of both sexes, between 45 and 70 years of age, with solid tumours of the lung, breast and gastrointestinal tract, without any infection; the variations induced on the maturation pattern as results of the administration of lithium carbonate. The results (evaluated statistically) show that in all patients there was a significant increase of monocytes-macrophages maturation from basal values, after 14 days of lithium carbonate treatment. Moreover, we also observed that 14 days after withdrawing of lithium carbonate, the values of monocytes-macrophages maturation return to their basal ones. The increase, as percentage of mean basal values, is higher in patients having low basal values of maturation.