Multiple molecular bases for thalassemia intermedia in east Sicily.
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Biomedical subjects
Publications and source records attributed to E Cacciola.
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Two types of alpha+ thalassemia (-alpha l) have been described, respectively termed leftward and rightward, which correspond to nonhomologous crossing-over in different homology zones X and Z within the alpha-globin gene cluster. Up to now the leftward type has been described only in Asiatic populations, whereas the rightward type is universally distributed. We report here a first case of leftward deletion observed in a Sicilian male. This raises the question of an identical or not crossing-over event.
Peripheral blood T-lymphocyte subsets, evaluated by means of a series of monoclonal antibodies, were assessed in 14 patients affected by thalassaemia intermedia, 7 of them previously splenectomized. A significant reduction of T+4 cells ('helper' T cells) was found in almost all patients, whereas T+8 cells ('suppressor/cytotoxic') showed a marked increase only in splenectomized subjects. Together with these quantitative T-subset abnormalities, which seemed to be partly affected by either splenectomy or high serum iron levels, an unusual circulating T-cell subpopulation labelled by T6 monoclonal antibody was detected in all patients. Complete disappearance of T+6 cells ('thymocyte-like' T lymphocytes) and normalization of the T4/T8 ratio was observed after 'in vitro' incubation of patient's lymphocytes with a crude thymus extract (Thymostimulin). This would suggest the presence of a so far unreported thymus-dependent defect of T-lymphocyte phenotypic maturation occurring in thalassaemia intermedia.
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An unusual case of 'non-excretory' myeloma is described in which, using immunofluorescence, only 'mu' heavy chains were detected in almost all bone marrow plasma-cell cytoplasm. Cytoplasmic light chains were completely lacking, and neither monoclonal whole immunoglobulin (Ig) nor free heavy nor light chains were detected in serum and urine, although the clinical and morphological features showed the classical pattern of myeloma. The possible mechanism which could play a role in the disturbance of the Ig-chain secretion observed in this case is discussed.
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The sinergic effect on thrombin-induced platelet aggregation by Free Fatty Acids (FFA) was studied "in vitro". Our results showed that "sub-critical" concentrations of long carbon chains of saturated and unsaturated FFA potentiated the platelet aggregation induced by "critical" concentration of thrombin. However, we suggest that: a) exogenous long carbon chains of FFA could enhance the platelet membrane lipids and increase the ciclic Endoperoxides, Prostaglandins and Thromboxan A2 synthesis; b) exogenous long carbon chains of FFA could induce the platelets more "sensitive" to aggregating effect of "critical" concentrations of thrombin.
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