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Thalassemia Reports
Volume 2
Issue 1
10.4081/thal.2012.e4
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Article

Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene

by
Margherita Vinciguerra
,
Monica Cannata
,
Filippo Cassarà
,
Pina Lo Gioco
,
Filippo Leto
,
Cristina Passarello
and
Antonino Giambona
*
Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies, Department of Haematology for Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Via G.L. Bernini 135, 90145 Palermo, Italy
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2012, 2(1), e4; https://doi.org/10.4081/thal.2012.e4
Submission received: 17 July 2012 / Revised: 25 September 2012 / Accepted: 26 September 2012 / Published: 28 November 2012

Abstract

The Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at the Villa Sofia-Cervello Hospital in Palermo, Italy, carries out an intensive screening program aimed at identifying the healthy carriers of thalassemia and, consequently, the couples at risk of bearing an affected fetus. The diagnostic process is basically divided into two phases: (i) hematologic and hemoglobin data; (ii) molecular analysis of globin genes and, when possible, a genetic study of the family. Since 2003, we have been performing DNA sequence analysis on those cases in which classical molecular methods failed to give a complete diagnostic response, particularly in phenotypes with borderline values of HbA2 with mild or absent microcytosis. During ten years of screening activities (from 2003 to 2012), twenty-seven unknown or rare nucleotide changes of the β-globin gene have been identified; hematologic and hemoglobin data have been carefully evaluated and, wherever possible, we have conducted a family study to evaluate whether a phenotypic expression could be associated to these nucleotide changes. Because of the limited numbers of cases for each mutation, the significance of these nucleotide substitutions has still not been fully clarified, and this raises a number of questions that need to be answered when carrying out appropriate genetic counseling for couples presumed to be at risk.

Keywords: thalassemia; nucleotide substitutions; genetic counseling thalassemia; nucleotide substitutions; genetic counseling

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MDPI and ACS Style

Vinciguerra, M.; Cannata, M.; Cassarà, F.; Lo Gioco, P.; Leto, F.; Passarello, C.; Giambona, A. Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene. Thalass. Rep. 2012, 2, e4. https://doi.org/10.4081/thal.2012.e4

AMA Style

Vinciguerra M, Cannata M, Cassarà F, Lo Gioco P, Leto F, Passarello C, Giambona A. Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene. Thalassemia Reports. 2012; 2(1):e4. https://doi.org/10.4081/thal.2012.e4

Chicago/Turabian Style

Vinciguerra, Margherita, Monica Cannata, Filippo Cassarà, Pina Lo Gioco, Filippo Leto, Cristina Passarello, and Antonino Giambona. 2012. "Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene" Thalassemia Reports 2, no. 1: e4. https://doi.org/10.4081/thal.2012.e4

APA Style

Vinciguerra, M., Cannata, M., Cassarà, F., Lo Gioco, P., Leto, F., Passarello, C., & Giambona, A. (2012). Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene. Thalassemia Reports, 2(1), e4. https://doi.org/10.4081/thal.2012.e4

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