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

Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen

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 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
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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
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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
,
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
,
Veronica Di SalvoDepartment 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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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 223-227 | Received 17 Mar 2016, Accepted 07 Apr 2016, Published online: 02 Jun 2016

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Yu Liu, Bo Liu, Ying-Chun Qiao & Wen-Yan Niu. (2022) A New Case of Hb Headington (HBB: c.217A>C) Due to a New DNA Transversion, Found in a Patient with Type 2 Diabetes Mellitus. Hemoglobin 46:3, pages 180-183.
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Yan Li, Jin-Mei Yan, Jian-Ying Zhou, Yue-Cheng Lu & Dong-Zhi Li. (2017) Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia. Hemoglobin 41:1, pages 47-49.
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