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Biomedical subjects

G Schiliro

Publications and source records attributed to G Schiliro.

At least 19 recordsLinked to original sources
PubMed1992

Clinical, hematological, and molecular features in Sicilians with Hb S-beta-thalassemia.

The clinical, hematological, and molecular features of 81 patients with Hb S-beta-thalassemia and relatives from 76 unrelated families are reported. We analyzed the beta-thalassemia mutations and the beta S haplotypes in all patients and detected 6 different beta-thalassemia alleles: codon 39 (C-->T) (39 cases), IVS-I-1 (G-->A) (12 cases), IVS-II-1 (G-->A) (4 cases), IVS-I-6 (T-->C) (6 cases), IVS-I-110 (G-->A) (14 cases), and IVS-II-745 (G-->C) (6 cases). Eighty patients had haplotype #19 or the Benin type and one had haplotype #17 or the Cameroon type. The type of beta-thalassemia allele had the greatest influence on the phenotypic expression; this was observed for patients with Hb S-beta-thalassemia and for simple beta-thalassemia heterozygotes. The mild IVS-I-6 (T-->C) mutation produced borderline abnormal erythrocytic indices and Hb A2 levels in heterozygotes. Overall, there was a milder expression in beta(S) beta(+) patients (only 7.7% presented severe disease) than in those with the beta(S)beta(0) condition (22.6% had the severe form of the disease).

Alleles↗
PubMed1992

Beta S haplotypes in various world populations.

We have determined the beta S haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S-beta-thalassemia, and in 322 Hb S heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the G gamma- and A gamma-globin genes through dot blot analysis of amplified DNA with 32P-labeled probes, and an analysis of isolated Hb F by reversed phase high performance liquid chromatography to detect the presence of the A gamma T chain [A gamma 75(E19)Ile----Thr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the beta S gene arose separately in different locations. The present methodology has the advantage of being relatively inexpensive and fast, allowing the collection of a vast body of data in a short period of time. It also offers the opportunity of identifying unusual beta S haplotypes that may be associated with a milder expression of the disease. The numerous blood samples obtained from many SS patients living in different countries made it possible to compare their hematological data. Such information is included (as average values) for 395 SS patients with haplotype 19/19, for 2 with haplotype 17/17, for 50 with haplotype 20/20, for 2 with haplotype 3/3, and for 37 with haplotype 31/31. Some information on haplotype characteristics of normal beta A chromosomes is also presented.

Africa↗
PubMed1991

The usefulness of sequence analysis of amplified DNA for the identification of delta chain variants.

A method of identifying delta chain variants using relatively small volumes of blood is described. The procedure consists of the amplification of two segments of genomic DNA with two sets of delta chain specific primers and sequencing of the three exons (exons 1, 2, and 3) which are part of the amplified DNA segments. Data for three delta chain variants present in seven adult heterozygotes are presented.

Adult↗
PubMed1991

Studies of delayed hypersensitivity responses in children in an industrialized region of Italy.

The purpose of the present study was to evaluate the effects of chronic exposure to chemical pollutants on cell mediated immune responses in a pediatric population living in Priolo, an industrialized area of Italy, by means of skin test (Multitest CMI). The results suggest that children living in Priolo display significantly lower delayed type hypersensitivity (DTH) response than those seen in an age-matched and socioeconomically similar group of children living in Taormina, a nonindustrialized area. The lowered incidence of DTH scores in Priolo is not due to the number of positive skin test responses to individual antigens, but rather to the size of individual reactions.

Child↗
PubMed1989

Evidence for the single origin of HB G-San Jose in Sicily.

Hb G-San Jose [alpha 2 beta 2 7(A4)Glu----Gly] was detected in four families and three unrelated individuals from Eastern Sicily. Polymorphic restriction sites within the beta-globin gene cluster bearing the mutation were characterized. A complete association of beta-G-San Jose alleles with Mediterranean haplotype IV was found in the families examined and the same haplotype was also present in the unrelated individuals. These findings support the hypothesis of an unicentric origin of the beta-G-San Jose mutation which may have arisen in Eastern Sicily.

Cluster Analysis↗
PubMed1979

Alpha thalassaemia in Sicily: haematological and biosynthetic studies.

Eight Sicilian patients with Hb H disease and their families have been studied. The standard haematological tests and the alpha/beta chain synthesis ratios showed significantly different results in the patients with Hb H disease as compared with alpha thalassaemia carriers, except for Hb A2 values. There was no significant difference in the mean RBC, MCV, Hb A2, Hb A1 and Hb F of alpha thalassaemia carriers compared with normal controls. On the contrary significant difference was found between the mean alpha/beta chain synthesis ratio of alpha thalassaemia carriers and that of the normal controls; however, the extensive overlapping of alpha/beta values between these two conditions make this parameter insufficiently discriminant. No correlation was found between MCV, MCH, RBC and alpha/beta chain synthesis ratio in patients with alpha thalassaemia trait, suggesting that the ratio cannot be used to distinguish between carriers of a mild gene ('silent' carrier) and carriers of the more severe alpha thalassaemia gene. A possible genetic model for alpha thalassaemia in Sicily is presented.

Adolescent↗
PubMed1979

Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications.

This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Ga16P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.

Adolescent↗
PubMed1979

Lymphocyte changes in beta-thalassaemia major.

Lymphocyte subpopulations were studied in 20 hypertransfused patients with beta-thalassaemia major, some of whom had been splenectomised. B-lymphocytes were normal but T-lymphocytes were decreased in all patients. The T-cell count was lower in the splenectomised patients than in the nonsplenectomised ones. In the former, the active rosette-forming lymphocytes were also diminished, but the difference was not significant. In all patients the percentage of null cells was greater and the activity of K-cells increased compared with controls.

Adolescent↗
PubMed1977

Granulocyte function in visceral leishmaniasis.

Nitroblue tetrazolium test in nine children with visceral leishmaniasis (VL) showed no increase of spontaneous reduction by neutrophils. The normal bactericidal activity of four of these patients excludes an impaired function of the neutrophils in VL.

Blood Bactericidal Activity↗
PubMed1977

Some properties of Hb G San Jose (beta7 glu replaced by gly): comparisons with Hb S.

Hb G San Jose (beta7 glu leads to gly) was studied with respect to oxygen affinity, Bohr effect, surface activity in dilute aqueous solutions, mechanical precipitability, heat stability and its ability to copolymerize in the deoxy form with Hb S. Oxygen affinity, Bohr effect, and polymerization with Hb S were found to be identical to those of Hb A when studied under the same conditions. However, surface activity and mechanical precipitation rates of the oxyconformers closely resembled those of oxyhemoglobin S. Hb G San Jose was also found to be slightly more unstable with heat than Hb A, although the instability was not detected by the usual incubation method of 1 hr at 50 degrees and higher temperatures were needed to elicit this difference. It is concluded that the ability to polymerize and the presence of increased surface activity are distinct and separable attributes of hemoglobin mutants. The finding that mixtures of Hb S and Hb G San Jose gel like mixtures of Hb S and Hb A supports the conclusion that only one beta 6 Val combining site per tetramer is required for polymer formation.

Adult↗
PubMed1976

Studies of the neutropenia in kala-azar: results in two patients.

Two patients with kala-azar were studied, one with DF32P (diisopropylfluorophosphate) and one with 51CR (chromate), in an attempt to elucidate the mechanisms producing neutropenia in this disease. The granulocyte half-life was found to be reduced in both patients, with pooling and probable destruction occurring in the spleen and, to a lesser extent, in the liver. Bone marrow neutrophil reserve, estimated by the response to intravenous hydrocortisone hemisuccinate, was found to be markedly reduced in both patients. An enlarged marginal granulocyte pool in one patient indicated that the neutropenia may also be due to altered intravascular granulocyte distribution.

Agranulocytosis↗
PubMed1976

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia.

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.

Alkalies↗