Search PubMed⌕ Search

Biomedical subjects

G Saglio

Publications and source records attributed to G Saglio.

At least 235 records · Page 13Linked to original sources
PubMed1980

A gamma and G gamma globin chain synthesis in BFU-E colonies from adult, newborn, and fetal subjects and from thalassemic patients.

The G gamma and A gamma content of Hb F produced in cultures of BFU-Es from the blood of normal fetuses, neonates, and adults was determined. The results show that erythroid progenitors produce A gamma and G gamma chains in a ratio characteristic of their ontogenic stage. The analysis of the G gamma/A gamma ratio in culture of BRU-Es from thalassemic patients showed a marked heterogeneity, resembling that observed in freshly drawn cells. These results afford evidence that the type of gamma chain produced is programmed at the level of early erythroid progenitors.

Adult↗
PubMed1979

Electrophoretic separation of A gamma and G gamma human globin chains in Nonidet P-40.

Electrophoresis in cellulose acetate in the presence of 3% Nonidet P-40 can resolve two neutral genetic variants, A gamma and G gamma human fetal globin chains. The ratio of these two chains, determined by densitometry of the electrophoretic strips, is in excellent agreement with the Gly-Ala ratio obtained by chemical analysis of the cyanogen bromide fragment gamma CB3. It is suggested that the detergent binds preferentially to the hydrophobic amino acid segment 133-141 in the A gamma chain, thus masking either a Lys or an Arg residue at the two extremes.

Electrophoresis, Cellulose Acetate↗
PubMed1979

[Biochemical and clinical studies of 2 new Italian cases of Hb G-Ferrara heterozygosis].

The Authors report the data concerning a family coming from Ficarolo (Rovigo). The father and one son were found hematologically healthy, but resulted carriers of Hb G-Ferrara. This is an unstable rare pigment with a replacement in the beta 57 (E-1) helicoidal position. The type and site of the mutation explain the "in vitro" molecular instability; on the other hand, this latter doesn't seem to cause any hematological disorder, even if an increased met-Hb production was found when affected blood was incubated at 37 degrees C for two hours in sterile conditions.

Adult↗
PubMed1979

Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).

Isoelectric focusing, cellulose acetate electrophoresis, and carboxymethylcellulose chromatography in the presence of Nonidet P-40 allow the separation of pure gamma chains into two fractions. Amino acid analysis of their cyanogen bromide fragment 3 (gamma CB3) identifies these fractions as the separated G gamma (Gly-136) and A gamma (Ala-136) globin chains. Fingerprint and amino acid analyses of the gamma Tp9 tryptic peptide from the purified A gamma and G gamma fractions from two different patients demonstrate that the commonly occurring gamma Sardinia variant (gamma 75 isoleucine leads to threonine), also known as T gamma chain, has alanine in position 136. From this analysis we suggest that the T gamma gene is an allele of the A gamma locus (A gamma Sardinia) rather than a third gamma locus.

Alleles↗
PubMed1979

Biosynthetic studies and gamma-chain composition in the Greek type of hereditary persistence of fetal hemoglobin and in its association with beta-thalassemia.

Hematological data, biosynthetic studies and gamma-chain structure of three heterozygotes for HPFH Greek type and of two heterozygotes for both HPFH and beta-thalassemia are reported. In the HPFH heterozygotes, hematological data were normal and globin chain synthesis balanced, while subjects carrying both HPFH and beta-thalassemia presented a thalassemic picture and the same degree of alpha/non-alpha-chain imbalance as the beta-thalassemia carrier belonging to the same family. The gamma-chain composition studies showed only the presence of Agamma-chains in HPFH; in the association HPFH/beta-thalassemia also some Ggamma and Tgamma were found. The mechanisms determining the high production of Hb F in the association HPFH/beta-thalassemia are discussed.

Adolescent↗
PubMed1978

Interaction between Hb Hasharon and alpha-thalassemia: an approach to the problem of the number of human alpha loci.

We report the case of an Italian infant girl from Polesine (Po delta region in northern Italy) who was heterozygous for Hb Hasharon and alpha-thalassemia, did not synthesize any normal HbA, and had 3% HbH on electrophoresis. Hematologic and biosynthetic studies on Hb Hasharon carriers of the propositus' family suggest the possibility that the Hb Hasharon gene is linked to an alpha-thalassemia gene. On the other hand, in the Askenazy carriers of Hb Hasharon, Hb Harsharon is probably linked to a normal alpha gene. In comparing Hb Hasharon's behavior with that of other alpha variants, particularly HbG Philadelphia, frequent recombinations between alpha structural genes were suggested. The possible identity between the single alpha locus and the alpha2-thalassemia genotype is discussed.

Female↗
PubMed1976

Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.

A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the gamma chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for beta thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same gamma75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a gamma gene nonallelic with those coding for Agamma and Ggamma chains.

Adult↗
PubMed1976

Clinical and haematological data in 254 cases of beta-thalassaemia trait in Italy.

The haematological and clinical data in 254 Italian subjects with beta-thalassaemia trait are reported. 46% of the patients were anaemic, 40% complained of weakness, 19% showed enlargement of the spleen and 10% enlargement of the liver. The haemoglobin levels ranged from 8 to 15.5 g/dl with a normal distribution and a mean of 12.73 for males, 10.93 for females and 11.34 for children (4-15 years). Reticulocyte counts and serum bilirubin levels were slightly increased and both showed a statistically significant relationship with haemoglobin levels. The serum iron level was increased in 27% and decreased in 6% of the cases. Haemoglobin A2 concentrations ranged from 3.5% to 8% with a normal distribution and a mean of 5.37; Hb F values were less than 1% in 36% and varied from 1 to 14% in the remainder. Red cell osmotic fragility was decreased in all but 6% of the subjects: low MCV, MCH and MCHC values were observed in 75%, 86% and 10% respectively. A comparison is made between the data and those obtained by other workers.

Adolescent↗
PubMed1975

The relationship between anemia, fecal stercobilinogen, erythrocyte survival, and globin synthesis in heterozygotes for beta-thalassemia.

Erythrocyte survival, fecal stercobilinogen, and the alpha/beta-chain synthesis ratio in recticulocytes and bone marrow (six cases only) were determined and related to the hemoglobin levels in ten heterozygous carriers of beta-thalassemia with different degrees of anemia. Erythrocyte survival values were low, though not related to the degree of anemia, whereas stercobilinogen values and changes in the peripheral blood alpha/beta-chain ratios were so correlated. In the case of bone marrow, on the other hand, the ratio between alpha-chain and beta-chain synthesis was virtually 1, irrespective of the degree of anemia. It is suggested that the severity of anemia in heterozygous carriers is independent of peripheral hemolysis and entirely attributable to destruction of erythroblasts within the marrow.

Anemia↗
PubMedDate not supplied

[Molecular medicine: new tools for better understanding and treatment of diseases in humans].

The authors discuss the importance that molecular medicine has assumed in recent years. Molecular methodologies have clearly demonstrated that immunological diversity is based fundamentally on the rearrangement of the genes encoding antigen B and T cell receptors. The importance of oncogenes, and their translocation in tumoral pathologies is emphasized, a case in point being the alterations observed in chronic myeloid leukemia and acute promyelocytic leukemia and their implication for innovative therapy. The importance of prothrombin and factor V genetic-molecular alterations in thromboembolic pathology and of the activation of calcineurin phosphatase or other intracellular signal regulator molecules during cardiac insufficiency genesis is also discussed. Particular attention is paid to progress regarding the socially important Alzheimer's syndrome, and the diagnosis of endocrine tumors. Moreover, the authors believe that the identification of new endocrine nuclear receptors, "orphans" of hormonal ligands, will open up interesting prospects--even therapeutic--in endocrinology. The authors conclude by reviewing the therapeutic prospects for immunodeficiency syndromes and malignant tumors, offered by new gene therapy methodologies. They also discuss recent results of studies on the aging process which, until not many years ago, appeared adventuristic. Today they are opening prospects of great interest.

Acquired Immunodeficiency Syndrome↗
PubMedDate not supplied

M-BCR breakpoint location does not predict survival in Philadelphia chromosome-positive chronic myeloid leukemia.

BACKGROUND: Some reports in the recent literature have shown that the site of molecular rearrangement within the M-BCR area may have a prognostic value in Ph1 + CML patients. A number of studies have, however, failed to demonstrate this finding. Here we report the molecular rearrangements of 107 patients and their clinical follow-up. METHODS: Localization of the breakpoints was determined according to conventional criteria, after digestion with 2 to 4 restriction endonucleases and hybridization with 1 or 2 molecular probes. RESULTS: Sixty two patients were rearranged in the 5' area and 45 in the 3' area: there was no difference between the survival curves of the two groups, at least not after 3 years of follow-up. CONCLUSIONS: The site of the breakpoint within the M-BCR has no prognostic significance in our series.

Adult↗
PubMedDate not supplied

Glivec and CML: a lucky date.

Chronic Myeloid Leukemia (CML) has always been an ideal model to understand the molecular pathogenesis of human leukaemias and the way to cure them. This can be ascribed to the fact that CML was the first human cancer demonstrated to be strongly associated to the presence of a recurrent chromosomal translocation (the t(9;22)(q34;q11) that creates the Philadelphia (Ph)-chromosome) and to a specific molecular defect, the formation of a hybrid BCR-ABL gene that generates new fusion proteins endowed with a constitutive tyrosine-kinase (TK) activity, strongly implicated in the pathogenesis of the disease. The introduction into clinical practice of imatinib, (Glivec, Gleevec, Novartis), a potent tyrosine kinase inhibitor of the Bcr-Abl protein as well as of a restricted number of other TKs, has not only produced a substantial improvement in the treatment of CML, but represents a major break-through in the perspective of opening a new era, that of molecularly targeted therapy, in the management of other types of leukemia, lymphoma and cancer in general.

Antineoplastic Agents↗