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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 4
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Original Article

Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling

Margherita VinciguerraDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
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Cristina PassarelloDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
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Filippo LetoDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
,
Anna CrivelloDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
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Maria FustaneoDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and
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Filippo CassaràDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
,
Monica CannataDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
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Aurelio MaggioDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy
&
Antonino GiambonaDepartment of Hematology and Rare Diseases, Unit of Rare Diseases of Blood and Blood-Forming Organs, Villa Sofia-Cervello Hospital, Palermo, Italy and ;Department of Hematology and Rare Diseases, Unit for Molecular Diagnosis of Rare Diseases, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, ItalyCorrespondence[email protected]
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Pages 231-235 | Received 24 Mar 2016, Accepted 28 Apr 2016, Published online: 03 Jun 2016

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Yuling Qiu, Yuanyuan Huang, Ping Chen, Shilu Wei, Qisheng Su, Zunni Zhang, Zheng Yang, Lihua Ye, Jun Huang, Xuelian Shen & Wuning Mo. (2020) Compound Heterozygosity for a Novel Mutation Codon 104 (–A) (HBB: c.313delA) and Codons 41/42 (–CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family. Hemoglobin 44:6, pages 402-405.
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Jun-Kun Chen, Xiao-Qin Xin & Jun-Gao Huang. (2018) A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC). Hemoglobin 42:3, pages 159-160.
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Runa M. Grimholt, Cornelis L. Harteveld, Sandra G. J. Arkesteijn, Bente Fjeld & Olav Klingenberg. (2018) Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance. Hemoglobin 42:2, pages 126-128.
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Articles from other publishers (1)

Jerko Vucak, Daniel Turudic, Danko Milosevic, Marko Bilic, Zrinko Salek, Martina Rincic & Ernest Bilic. (2018) Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations. Journal of Pediatric Hematology/Oncology 40:2, pages e77-e82.
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