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Biomedical subjects

C Vullo

Publications and source records attributed to C Vullo.

At least 91 records · Page 5Linked to original sources
PubMed1983

Beta-cell function assessed by plasma C-peptide evaluation in diabetic thalassaemic patients.

In order to investigate the pancreatic function in patients with thalassaemia major, plasma glucose and immunoreactive C-peptide levels were determined in 9 diabetic thalassaemic patients and in 7 controls after arginine infusion. Mean basal and peak values and C-peptide areas in thalassaemic patients did not differ significantly from those of the controls. However, in the thalassaemic group there was a greater variation in values, since pancreatic beta-cell function was found either normal, reduced or increased. These findings could suggest that different factors may lead to diabetes which complicates thalassaemia, i.e. insulin-resistance, probably due to liver damage subsequent to iron deposition and infectious hepatitis, and insulinopenia, probably due to beta-cell lesion following iron storage in the pancreas.

Adolescent↗
PubMed1982

Haemoglobin levels and blood requirement in thalassaemia.

The relationship between blood requirement and the mean level of maintained haemoglobin was examined in 392 patients with homozygous beta-thalassaemia. Pre- and post-transfusional haemoglobin levels and the amounts of blood transfused were measured during a 1-year period. No significant differences were noted in the blood requirements of patients (splenectomised or not) irrespective of the haemoglobin level. It may be supposed that if the mean haemoglobin level is high the haematopoietic activity is inhibited, and hence the bone marrow mass and total blood volume are reduced. High haemoglobin levels may thus be obtained with no increase in blood intake.

Adolescent↗
PubMed1982

Vitamin E in beta-thalassemia.

In homozygous beta-thalassemia low serum level of alpha-tocopherol have been found. The administration of high doses of the vitamin increased the serum level, decreased lipid peroxidation and, in some case, prolonged red blood cell survival; no significant change in transfusion requirement was obtained. Only few data are available about the vitamin E in heterozygous beta-thalassemia. We have studied 131 patients aged 1 to 72 years with thalassemic trait and 218 age-matched controls. Serum level of alpha-tocopherol was statistically lower in the former. We have studied the effect of vitamin E on 10 patients. In each subject the subsequent parameters were determined before and after a three month treatment (vitamin E 400-600 mg/day) glutathione peroxidase, pyruvate kinase and creatine in erythrocytes serum vitamin E and red blood cell count. Hematological values were unchanged in all patients. In half of them biochemical parameters showed reduction of lipid peroxidation and increased erythrocyte survival.

Adolescent↗
PubMed1981

Red-cell metabolism of pyridoxine in controls and beta-Thalassaemia in Ferrara, Northern Italy.

The rate of red-cell metabolism of pyridoxine to pyridoxal phosphate was measured in control subjects and patients with homozygous and heterozygous beta-thalassaemia from Ferrara, Northern Italy, and in British control subjects of Anglo-Saxon origin. A high incidence of a slow rate of B6 metabolism was found in beta-thalassaemia in Ferrara similar to that found previously in Cypriots living in London. Of particular interest was a much slower rate in control subjects from Ferrara than in British control subjects of Anglo-Saxon origin. The suggestion that a high incidence of a slow red-cell metabolism of B6 is the result of selection by malaria, whether associated with thalassaemia or not, is considered.

Cyprus↗
PubMed1980

Assessment of prospective genetic counseling in the Ferrara area.

A group of 613 heterozygotes for beta thalassemia (267 married, 346 unmarried) who were screened mostly at elementary school age, were identified and interviewed at the average age of 23.7 years to assess their knowledge of the heterozygous state and its implications. It was found that 83% recalled some information about their heterozygous state; only 60% had some information about the meaning of being heterozygous, and only 26% said they knew of some relationship between Cooley's anemia and the heterozygous state for beta thalassemia. In the married group, the proportion of those having married another carrier was in agreement with random mating expectations. It was concluded that there is ample room for improvement in the procedures of delivery of prospective genetic counseling at the population level in this area.

Adolescent↗
PubMed1980

Organization of alpha-globin genes and mRNA translation in subjects carrying haemoglobin Hasharon (alpha 47 Asp replaced by His) from the Ferrara Region (Northern Italy).

In subjects carrying the haemoglobin Hasharon mutation (alpha 47 replaced by His), originally from the delta of the Po river (Northern Italy), the concentration of the alpha-globin variant has been evaluated and found to be approximately 32%, a value definitely higher than that reported for the same mutant haemoglobin in other regions. Restriction enzyme analysis has been carried out on the DNA from these subjects; the data obtained indicate the presence of three alpha-globin genes per diploid cell. Family studies further show that the two normal genes are located on one chromosome and the Hasharon gene on the other. The origin of the single alpha-gene in the Hasharon-carrying subjects of the Ferrara region is discussed in connection with their haematological and biosynthetic data.

Aspartic Acid↗
PubMed1980

Genetic counselling in beta thalassemia in Ferrara.

The effects of retrospective and prospective genetic counselling were studied in the Ferrara area, where the gene for beta thalassemia has polymorphic frequency. It was found that retrospective genetic counselling may have an effect in influencing the retrospective behaviour of couples who already have a child with Cooley's anemia. If the child is at a late birth order, reproduction may be terminated; if it is at an early birth order, it is continued, so that reproductive compensation takes place. In prospective counselling, given after population screening, it was found that the individuals identified as heterozygotes know, in a large percentage, what their state is and what its possible reproductive consequences are. However, it was found that the effect of such knowledge is not significant in influencing the marriage choice of heterozygotes.

Female↗
PubMed1978

Decrease of alpha-Hasharon globin in beta-thalassaemia.

In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined. The alpha-globin molecules synthesized in excess were found to be removed from the red cell cytoplasm (phenomenon characteristic of beta-thalassaemia, described by Bargellesi et al, 1968a); in addition the alphaHasharon-globin molecules were removed at a faster rate than normal alpha-globin. The preferential removal of the mutant alpha-globin explains the reduced level of haemoglobin Hasharon found in subjects carrying the gene for beta-thalassaemia (Alberti et al, 1975). Reductions below normal levels of other haemoglobin variants occurring in the presence of the counterpart-globin thalassaemia are probably determined through a similar mechanism.

Genes↗
PubMed1978

Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology.

Two new mutant Pks, electrophoretically identical but kinetically slightly different, are reported. These two clinically innocuous PK variants, encountered in two non-related subjects, have combined in their daughter to give a fully expressed haemolytic anaemia. The functional abnormalities of the daughter's PK (increased K0.5 PEP, abnormal response to FDP, increased urea and guanidine-HCl stability, abnormal isoelectrofocusing and electrophoretic patterns) were like those of the parents but more pronounced, except for thermostability that was normal in the proband although markedly decreased in both parents. The family examined demonstrates that there is no relationship between in vitro properties of the variant and the severity of haemolysis. The hypothesis is put forward that the cause of haemolysis in PK deficiency may be associated with another defect located in the red cell membrane.

Anemia, Hemolytic↗