The Experts below are selected from a list of 33 Experts worldwide ranked by ideXlab platform

Piero C Giordano - One of the best experts on this subject based on the ideXlab platform.

  • occurrence of common and rare δ globin gene defects in two multiethnic populations thirteen new mutations and the significance of δ globin gene defects in β Thalassemia diagnostics
    International Journal of Laboratory Hematology, 2011
    Co-Authors: Marion Phylipsen, Cornelis L Harteveld, Monica V E Gallivan, Sandra G J Arkesteijn, Piero C Giordano
    Abstract:

    Introduction The aim of this review is to study the frequency of common and the occurrence of rare and novel mutations of the Delta-globin gene and of Hb Lepore defects that might interfere with Thalassemia diagnostics and to report the rationale of HbA2 estimation in the presence of Delta- or alpha-gene mutations. Methods A total of 135 cases suspected to have a Delta-globin gene defect collected in a diagnostic center in the USA and in a reference laboratory in the Netherlands were characterized by molecular analysis. Results Hb B2 was found at a frequency of at least 0.5% in the USA and 0.87% in the Netherlands. Known variants such as Hb A2-Babinga, Hb A2-Sphakia, Hb A2-Fitzroy, Hb A2-Flatbush, Hb A2-NYU, Hb A2-Grovetown, HbA2-Yialousa, Hb A2-Indonesia and several Delta-Thalassemia mutations were found together with 13 new mutations and two new polymorphisms, while Hb Lepores were regularly observed. Conclusion HbA2 mutations either structurally stable and visible or undetectable because of a Thalassemia effect or instability are clinically asymptomatic but may compromise the diagnosis of beta-Thalassemia minor. Stable mutations result in two HbA2 fractions of about half of the expected value. Expression defects are undetectable as a protein fraction but reduce the amount of HbA2 by half.

  • known and new Delta globin gene mutations and their diagnostic significance
    Haematologica, 2006
    Co-Authors: Marelle J Bouva, Cornelis L Harteveld, Peter Van Delft, Piero C Giordano
    Abstract:

    Mutations in the Delta-globin gene (HBD, MIM# 142000) are not pathologically relevant. However, since high HbA2 levels are diagnostic for beta-Thalassemia trait and a lowered level for an alpha- or Delta-mutation, co-inheritance of Delta- and beta-gene defects may lead to misinterpretation of diagnostic results. We examined 29 cases with low HbA2 level diagnosed in our laboratory, in the presence or absence of a second HbA2 fraction. We found a Delta globin gene mutation in 20 cases. In total four different known mutations were found, three structural and one expressional. Moreover, two new defects were observed, one causing a structural abnormality and one a beta-Thalassemia. The structural abnormality HBD c.431A->G (p.His144Arg)(dcd 143 CAC->CGC) was homologous to the beta-globin gene variant called Hb-Abruzzo and we have named this mutation HbA2 -Abruzzo. The new Delta-Thalassemia defect HBD c.-118C->T (d -68 C->T) has no homology on the beta-globin gene (HBB, MIM# 141900). All mutations caused a low HbA2 level and through this could lead to misdiagnosis when inherited together with a beta-Thalassemia.

Aurelio Maggio - One of the best experts on this subject based on the ideXlab platform.

  • analysis of Delta globin gene alleles in the sicilian population identification of five new mutations
    Haematologica, 2006
    Co-Authors: Antonino Giambona, Cristina Passarello, Gaetano Ruggeri, Disma Renda, Pietro Teresi, Maurizio Anza, Aurelio Maggio
    Abstract:

    Although Delta-globin gene (HBD MIM#142000) mutations have no clinical implications, co-inheritance of beta- and Delta-Thalassemia may lead to misdiagnosis. Among 7,153 samples studied for beta-Thalassemia, 205 samples with lower than expected HbA2 levels were selected for our analysis and 183 samples (2.5%) were positive for Delta-globin gene mutations. Twelve different mutations were detected, and among these five have not been not previously described (HbA2-Catania HBD c.8A-->T, HbA2-Corleone HBD c.41C-->A, HbA2-Ventimiglia HBD c.212C-->G, HbA2-Montechiaro HBD c.260C-->A, and HbA2-Bagheria HBD c.422C-->T). This study suggests that Delta-globin gene defects are very common in Sicily. Thus, these mutations need to be considered during beta-Thalassemia screening to avoid false negative results in the detection of at-risk couples.

Cornelis L Harteveld - One of the best experts on this subject based on the ideXlab platform.

  • occurrence of common and rare δ globin gene defects in two multiethnic populations thirteen new mutations and the significance of δ globin gene defects in β Thalassemia diagnostics
    International Journal of Laboratory Hematology, 2011
    Co-Authors: Marion Phylipsen, Cornelis L Harteveld, Monica V E Gallivan, Sandra G J Arkesteijn, Piero C Giordano
    Abstract:

    Introduction The aim of this review is to study the frequency of common and the occurrence of rare and novel mutations of the Delta-globin gene and of Hb Lepore defects that might interfere with Thalassemia diagnostics and to report the rationale of HbA2 estimation in the presence of Delta- or alpha-gene mutations. Methods A total of 135 cases suspected to have a Delta-globin gene defect collected in a diagnostic center in the USA and in a reference laboratory in the Netherlands were characterized by molecular analysis. Results Hb B2 was found at a frequency of at least 0.5% in the USA and 0.87% in the Netherlands. Known variants such as Hb A2-Babinga, Hb A2-Sphakia, Hb A2-Fitzroy, Hb A2-Flatbush, Hb A2-NYU, Hb A2-Grovetown, HbA2-Yialousa, Hb A2-Indonesia and several Delta-Thalassemia mutations were found together with 13 new mutations and two new polymorphisms, while Hb Lepores were regularly observed. Conclusion HbA2 mutations either structurally stable and visible or undetectable because of a Thalassemia effect or instability are clinically asymptomatic but may compromise the diagnosis of beta-Thalassemia minor. Stable mutations result in two HbA2 fractions of about half of the expected value. Expression defects are undetectable as a protein fraction but reduce the amount of HbA2 by half.

  • known and new Delta globin gene mutations and their diagnostic significance
    Haematologica, 2006
    Co-Authors: Marelle J Bouva, Cornelis L Harteveld, Peter Van Delft, Piero C Giordano
    Abstract:

    Mutations in the Delta-globin gene (HBD, MIM# 142000) are not pathologically relevant. However, since high HbA2 levels are diagnostic for beta-Thalassemia trait and a lowered level for an alpha- or Delta-mutation, co-inheritance of Delta- and beta-gene defects may lead to misinterpretation of diagnostic results. We examined 29 cases with low HbA2 level diagnosed in our laboratory, in the presence or absence of a second HbA2 fraction. We found a Delta globin gene mutation in 20 cases. In total four different known mutations were found, three structural and one expressional. Moreover, two new defects were observed, one causing a structural abnormality and one a beta-Thalassemia. The structural abnormality HBD c.431A->G (p.His144Arg)(dcd 143 CAC->CGC) was homologous to the beta-globin gene variant called Hb-Abruzzo and we have named this mutation HbA2 -Abruzzo. The new Delta-Thalassemia defect HBD c.-118C->T (d -68 C->T) has no homology on the beta-globin gene (HBB, MIM# 141900). All mutations caused a low HbA2 level and through this could lead to misdiagnosis when inherited together with a beta-Thalassemia.

Marelle J Bouva - One of the best experts on this subject based on the ideXlab platform.

  • known and new Delta globin gene mutations and their diagnostic significance
    Haematologica, 2006
    Co-Authors: Marelle J Bouva, Cornelis L Harteveld, Peter Van Delft, Piero C Giordano
    Abstract:

    Mutations in the Delta-globin gene (HBD, MIM# 142000) are not pathologically relevant. However, since high HbA2 levels are diagnostic for beta-Thalassemia trait and a lowered level for an alpha- or Delta-mutation, co-inheritance of Delta- and beta-gene defects may lead to misinterpretation of diagnostic results. We examined 29 cases with low HbA2 level diagnosed in our laboratory, in the presence or absence of a second HbA2 fraction. We found a Delta globin gene mutation in 20 cases. In total four different known mutations were found, three structural and one expressional. Moreover, two new defects were observed, one causing a structural abnormality and one a beta-Thalassemia. The structural abnormality HBD c.431A->G (p.His144Arg)(dcd 143 CAC->CGC) was homologous to the beta-globin gene variant called Hb-Abruzzo and we have named this mutation HbA2 -Abruzzo. The new Delta-Thalassemia defect HBD c.-118C->T (d -68 C->T) has no homology on the beta-globin gene (HBB, MIM# 141900). All mutations caused a low HbA2 level and through this could lead to misdiagnosis when inherited together with a beta-Thalassemia.

Antonino Giambona - One of the best experts on this subject based on the ideXlab platform.

  • analysis of Delta globin gene alleles in the sicilian population identification of five new mutations
    Haematologica, 2006
    Co-Authors: Antonino Giambona, Cristina Passarello, Gaetano Ruggeri, Disma Renda, Pietro Teresi, Maurizio Anza, Aurelio Maggio
    Abstract:

    Although Delta-globin gene (HBD MIM#142000) mutations have no clinical implications, co-inheritance of beta- and Delta-Thalassemia may lead to misdiagnosis. Among 7,153 samples studied for beta-Thalassemia, 205 samples with lower than expected HbA2 levels were selected for our analysis and 183 samples (2.5%) were positive for Delta-globin gene mutations. Twelve different mutations were detected, and among these five have not been not previously described (HbA2-Catania HBD c.8A-->T, HbA2-Corleone HBD c.41C-->A, HbA2-Ventimiglia HBD c.212C-->G, HbA2-Montechiaro HBD c.260C-->A, and HbA2-Bagheria HBD c.422C-->T). This study suggests that Delta-globin gene defects are very common in Sicily. Thus, these mutations need to be considered during beta-Thalassemia screening to avoid false negative results in the detection of at-risk couples.