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of 6
pro vyhledávání: '"Luciana Guiso"'
Autor:
Luciana Guiso, Elena Rimini, Maurizio Roberto Longinotti, Paola Pistidda, L. Oggiano, Laura Frogheri
Publikováno v:
Clinical & Laboratory Haematology. 14:289-292
In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndro
Autor:
Laura Manca, Luciana Guiso, Maurizio Roberto Longinotti, Paola Pistidda, L. Cherchi, Simonetta Pardini, Marcella Corda, Monica Pirastru, Bruno Lucio Masala
Publikováno v:
Hemoglobin. 25:341-345
The occurrence of several abnormal hemoglobins (Hbs) in the population of the island of Sardinia has been documented [[1]]. Because of continuing screening programs for hemoglobinopathies among new...
Autor:
Maurizio Roberto Longinotti, Paola Pistidda, Luciana Guiso, Fausto Dore, Laura Frogheri, Simonetta Pardini, L Angioni
Publikováno v:
Clinical & Laboratory Haematology. 18:241-244
To determine the incidence of delta+ 27 thalassaemia in Northern Sardinia we examined blood samples from 750 Sardinian schoolboys by PCR-based molecular analysis. The incidence of delta+ 27 mutation was 1.2% in this study, i.e. twice as high as previ
Autor:
John G. Gilman, Fausto Dore, Maurizio Roberto Longinotti, Laura Manca, Luciana Guiso, Paola Pistidda, L. Oggiano, Bruno Lucio Masala, Laura Frogheri
Publikováno v:
American Journal of Hematology. 49:267-270
The -117(G-->A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these def
Autor:
Maurizio Roberto Longinotti, Paola Pistidda, L. Oggiano, Laura Frogheri, Georgios Loudianos, Mario Pirastu, Luciana Guiso, Antonio Cao, Elena Rimini
Publikováno v:
American Journal of Hematology. 45:81-84
The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing m
Publikováno v:
The hematology journal : the official journal of the European Haematology Association. 3(4)
Hb J Sardegna is a well known innocent Hb variant which is widespread in Sardinia. As yet, homozygosity for Hb J Sardegna has not been documented. This report deals with the homozygous state for Hb J which we demonstrate by molecular analysis in two