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Biomedical subjects

G Fiorelli

Publications and source records attributed to G Fiorelli.

At least 163 records · Page 9Linked to original sources
PubMed1987

Association of thalassaemia intermedia with a beta-globin gene haplotype.

We have identified 14 Asian patients with homozygous beta zero thalassaemia who had a mild clinical disorder related to an augmented production of haemoglobin F. None of their parents had an elevated level of Hb F. Restriction fragment length polymorphism analysis of the beta-globin cluster of these patients and a control group of Asian thalassaemia major patients showed that 6/14 of the thalassaemia intermedia patients were homozygous for a particular 5' beta-globin haplotype (-+-++), in contrast to 1/42 of the thalassaemia major patients. Furthermore, the -+-++ beta haplotype is also associated with amelioration of disease severity in beta thalassaemia in an Italian population. This beta haplotype is linked to a DNA sequence variation 5' (at position -158) to the G gamma globin gene which can be detected by the presence (+) of an Xmn I restriction enzyme site. The possible role of the Xmn I-gamma polymorphism in relation to this variant HPFH is discussed. We conclude that much of the observed clinical variability of beta thalassaemia can now be explained by the inheritance of beta thalassaemia chromosomes with different propensities for fetal haemoglobin production.

Adolescent↗
PubMed1987

Cimetropium bromide, a new antispasmodic agent, has no hemolytic effects in humans.

Many agents have been reported to cause hemolytic anemia in glucose-6-phosphate dehydrogenase (G6PD) deficient subjects. We investigated whether cimetropium bromide, a new antispasmodic drug, can be safely given to these patients. In the first study, ten healthy volunteers were given 50 mg, p.o. 3 times per day, before meals for 1 week. Blood samples were drawn before and after treatment and stimulation of the hexose monophosphate shunt (HMS) was evaluated. No significant stimulation of HMS was observed. In a second study, 12 G6PD-deficient patients with spastic colon were given cimetropium bromide and placebo according to a double blind, cross-over design. None of the patients showed any significant abnormalities in any of the several hematologic parameters tested.

Adult↗
PubMed1986

Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.

Two siblings, both splenectomized at an early age for hereditary spherocytosis, had a severe hemochromatosis develop. The human leukocyte antigen (HLA) system typing showed that they were half HLA identical. All the other members of the family who did not have evidence of hereditary spherocytosis, including those who displayed identical HLA haplotypes with the two patients, did not have any increase in iron stores. These results suggest that the two siblings are heterozygous for idiopathic hemochromatosis and that the coexistence of this condition with hereditary spherocytosis can cause a severe iron overload.

Adult↗
PubMed1986

Feasibility of prenatal diagnosis of beta thalassaemia by DNA polymorphisms in an Italian population.

A feasibility study of prenatal diagnosis of beta thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous beta thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava II psi beta polymorphism increased this figure to 23/25 (92%) of the families.

Child↗
PubMed1986

Alpha thalassaemia in an Italian population.

The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of alpha-thalassaemia caused by a single alpha-globin gene deletion (-alpha). The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

Chromosome Deletion↗
PubMed1986

Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?

Thirty two unrelated Italian subjects with idiopathic haemochromatosis were studied. HLA-A3 was present in 26 of them (81% v 22% in controls; p less than 0.001) and HLA B7 in eight (28% v 9%; p less than 0.01). There was no important association between idiopathic haemochromatosis and HLA B14. Subdividing the patients on the basis of their regional origin a noticeably higher prevalence of HLA Bw35 in patients with idiopathic haemochromatosis from north eastern Italy was found than in those from Lombardy, or in the controls; there were no differences in the incidence of HLA A3 and B7 between patients with idiopathic haemochromatosis from different areas. A high prevalence of A3, Bw35, and A3, B7 haplotypes was found in our patients with idiopathic haemochromatosis. A3, Bw35 could be the haplotype most commonly linked to the idiopathic haemochromatosis gene in north eastern Italy.

Adult↗
PubMed1985

Feasibility of prenatal diagnosis of beta-thalassaemia with synthetic DNA probes in two Mediterranean populations.

A feasibility study in two Mediterranean populations showed that prenatal diagnosis of beta-thalassaemia with a limited number of synthetic oligonucleotide probes would have been possible in about 70% of cases. To provide a comprehensive programme of prenatal diagnosis for the thalassaemias it would be necessary, in most populations, to combine fetal DNA analysis with fetal blood sampling and globin-chain synthesis studies.

Autoradiography↗
PubMed1985

Iron overload in subjects with beta-thalassaemia trait: role of idiopathic haemochromatosis gene.

We have characterized HLA antigens in subjects with beta-thalassaemia trait with and without iron overload. 50% of the cases with iron overload (v 18% of those without iron overload, P less than 0.01) are carriers of HLA-A3, the HLA antigen tightly linked to the IH allele. Thus, in a considerable number of these subjects, beta-thalassaemia and IH coexist. This association exerts a synergistic effect in inducing iron overload.

Adolescent↗
PubMed1985

G6PD encapsulation and metabolic properties of loaded erythrocytes.

Two different dialysis methods were used to G6PD load the erythrocytes of G6PD deficient subjects. With both methods the yield of entrapment was about 30-40% of the added G6PD. The functional behaviour of these G6PD loaded erythrocytes was evaluated by HMS either in resting conditions or under oxidative stimulation. An increase of the metabolic activity of the G6PD loaded erythrocytes was found. This model provides an useful approach in studying the hemolytic activity of a variety of agents.

Erythrocytes↗
PubMed1984

Erythrocyte ferritin in thalassemia syndromes.

Basic ferritin (liver-type) was measured in erythrocytes of subjects with alpha- and beta-thalassemia trait, thalassemia intermedia and Cooley's disease, and compared with normals and patients with abnormal iron metabolism without erythrocyte metabolic defect (iron deficiency anemia and idiopathic hemochromatosis). In all the thalassemic syndromes considered, erythrocyte ferritin was significantly higher than in normals (p less than 0.001) and increased progressively with the increasing 'severity' of the thalassemic disorder. In both thalassemic and non-thalassemic subjects, erythrocyte ferritin levels were related to body iron status, but in the thalassemic group, the increased erythrocyte ferritin values seemed also to be closely related to the intracellular metabolic abnormality. The severity of the defect in globin chain synthesis seemed to play an important role in determining ferritin accumulation in red cells of thalassemic subjects.

Adolescent↗
PubMed1983

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.

The possible linkage between a gene causing heterocellular hereditary persistence of fetal hemoglobin (HPFH) and human non-alpha globin loci has been studied in a large Sardinian family. In this family a homozygous beta o-thalassemic patient was found, with an unusually mild form of this disease, which was ascribed to the co-existence of a gene causing heterocellular HPFH. DNA polymorphisms in the non-alpha globin cluster were analyzed by restriction enzyme digestion with HincII, HindIII and BamHI and with epsilon-, gamma-and beta-globin probes; the pattern of inheritance of these polymorphisms indicates that the HPFH gene is transmitted with one beta o-thalassemic gene in a single instance, with the second beta o-thalassemic gene in three instances and with a normal beta-globin gene in two cases. These data indicate that this HPFH gene is not linked to the non-alpha globin gene cluster, in contrast to previous observations with different HPFH genes, and suggest that this gene might code for diffusible substances acting, directly or indirectly, on gamma-globin gene expression.

Adult↗
PubMed1983

Steroid secretion by the prepubertal human testis.

It has been demonstrated that the human testis secretes testosterone and, to a smaller extent and less constantly, also androstenedione. Testosterone, progesterone, 17 alpha-hydroxyprogesterone and 20 alpha-dihydroprogesterone have been measured in the spermatic and peripheral venous blood of prepubertal boys undergoing surgery for undescended testis or inguinal hernia repair. The spermatic plasma levels of testosterone and progesterone were significantly higher than peripheral levels. A significant spermatic-peripheral gradient was not found for 17 alpha-hydroxyprogesterone and 20 alpha-dihydroprogesterone. These studies demonstrate that the secretory pattern of the human prepubertal testis is different from that of the adults.

Androgens↗