Lina Oggiano

Publications (5)5.78 Total impact

• Article: Haematological phenotypes in a family with triplicated α‐globin gene, β∘39 and δ+27 thalassaemia mutations

  LINA OGGIANO, ELENA RIMINI, LAURA FROGHERI, LUCIANA GUISO, PAOLA PISTIDDA, MAURIZIO LONGINOTTI
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  ABSTRACT: Summary In this paper we report an unusual Sardinian family, in which the heterozygosity for β∘39-thalassaemia and for triple α-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a δ+27-thalassaemia point mutation, which in trans to the β∘39 defect invariably normalizes the HbA2 levels.
  Clinical & Laboratory Haematology 06/2008; 14(4):289 - 292. · 1.11 Impact Factor
• Article: Fetal hemoglobin expression in compound heterozygotes for −117 (G→A) Aγ HPFH and β039 nonsense thalassemia

  Paola Pistidda, Laura Frogheri, Lina Oggiano, Luciana Guiso, Laura Manca, Fausto Dore, Bruno Masala, John G. Gilman, Maurizio Longinotti
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  ABSTRACT: The-117(G→A) Aγ hereditary persistence of fetal hemoglobin (Greek HPFH) and β039-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and β039-thal to haplotype II. Haplotype II β039-thal chromosome carries the AγT gene which is a useful marker of γ-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 −117 HPFH carriers, the Aγt, and Gγ globin level was determined. AγT was underexpressed while Gγ was significantly increased, which suggests that in −117 Aγ HPFH/β039-thal healthy subjects the increase in Hb F production is determined only by the −117 mutated Aγ gene and the adjacent Gγ gene. © 1995 Wiley-Liss, Inc.
  American Journal of Hematology 07/2006; 49(4):267 - 270. · 4.67 Impact Factor
• Article: A 12-year preventive program for β-thalassemia in Northern Sardinia

  Maurizio Roberto Longinotti, Paola Matilde Pistidda, Lina Oggiano, Luciana Guiso, Maria Laura Frogheri, Fausto Dore, Simonetta Pardini, Silvana Bonfigli, E Rimini, S. Angioni, Pino Mulas, Agostino Inzaina
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  ABSTRACT: From 1980 to 1991, 6.3% of the adult population of the province of Sassari, Northern Sardinia, underwent voluntary β-thalassemia screening. Of the 28 000 subjects examined, 15.7% proved to be heterozygotes for β-thalassemia. In addition, the screening of 7500 students in 26 villages in Sassari province fixed the frequency of β-thalassemia in this part of Sardinia at 10.4%. Of the 539 couples at risk to be expected from this figure, the screening detected 43% (234). The data suggest that inductive screening played a major role in the efficiency of this preventive β-thalassemia program. Follow up of 221 pregnancies found to be at risk for homozygous β-thalassemia and referred to the Antenatal Diagnosis Service, Cagliari, Southern Sardinia, showed that antenatal diagnosis was carried out in 80% of them. The overall percentage of couples refusing antenatal diagnosis was 10.8%, but over the years the acceptance rate for the procedure increased from 87% to 96%. Atypical hematological findings in 1.5% of 468 members of the couples at risk required globin chain synthesis and molecular analyses to define the precise β-thalassemia genotype. Heterogeneous "mild"β-thalassemia mutations as well as coexisting δ-thalassemia were found in silent type I and type II β-thalassemia carriers which, without chain synthesis and DNA investigations, would have escaped detection.
• Article: Homozygous βd-39 mutation with thalassemia intermedia in Northern Sardinia: clinical, hematological and molecular analysis

  Lina Oggiano, Fausto Dore, Paola Matilde Pistidda, Luciana Guiso, Laura Manca, Bruno Lucio Masala, Mario Pirastu, Maria Cristina Rosatelli, Antonio Cao, Maurizio Roberto Longinotti
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  ABSTRACT: In this study, we investigated the clinical and hematological features and carried out α- and β-globin gene analyses in 11 Sardinian adult βd-thalassemia homozygotes from Northern Sardinia who were not transfusion-dependent. Oligonucleotide analysis revealed in nine out of 11 patients the nonsense mutation at codon 39, which was associated either with haplotype II or IX (14/16 and 2/16 chromosomes, respectively). Haplotype II was linked to the A_γT mutation. The G_γ globin level ranged from 50 to 70%. Four out of nine patients (44%) were heterozygous and 3/9 (33%) homozygous for the rightward deletional type of α-thalassemia; two (22%) had the normal α-gene complement. Patients who were α-thalassemia homozygotes (-α/-α) showed a more balanced globin chain synthesis ratio. This study confirms that α-thalassemia may ameliorate the clinical picture of homozygous βd-thalassemia.
• Article: Fetal hemoglobin expression in compound heterozygotes for -117 (G→A) ^Aγ HPFH and β⁰39 nonsense thalassemia

  Paola Matilde Pistidda, Maria Laura Frogheri, Lina Oggiano, Luciana Guiso, Laura Manca, Fausto Dore, Bruno Lucio Masala, John G. Gilman, Maurizio Roberto Longinotti
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  ABSTRACT: The-117(G→A) ^Aγ hereditary persistence of fetal hemoglobin (Greek HPFH) and β⁰39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and β⁰39-thal to haplotype II. Haplotype II β⁰39-thal chromosome carries the ^Aγ^T gene which is a useful marker of γ-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the ^Aγ^t, and ^Gγ globin level was determined. ^Aγ^T was underexpressed while ^Gγ was significantly increased, which suggests that in -117 ^Aγ HPFH/β⁰39-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated ^Aγ gene and the adjacent ^Gγ gene.