TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.

Radio, Francesca Clementina; Majore, Silvia; Binni, Francesco; Valiante, Michele; Ricerca, Bianca Maria; De Bernardo, Carmelilia; Morrone, Aldo; Grammatico, Paola

Radio, Francesca Clementina; Majore, Silvia; Binni, Francesco; Valiante, Michele; Ricerca, Bianca Maria; De Bernardo, Carmelilia; Morrone, Aldo; Grammatico, Paola.

Afiliação

Radio FC; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address: francesca.clementina.radio@gmail.com.
Majore S; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
Binni F; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
Valiante M; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
Ricerca BM; Hematology Department, Catholic University of Sacro Cuore, Rome, Italy.
De Bernardo C; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
Morrone A; Healthcare Administration, S. Camillo-Formìlanini Hospital, Rome, Italy.
Grammatico P; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.

Blood Cells Mol Dis ; 52(2-3): 83-7, 2014.

Article em En | MEDLINE | ID: mdl-24055163

Assuntos

Hemocromatose/genética; Receptores da Transferrina/deficiência; Alelos; Sequência de Bases; Análise Mutacional de DNA; Hemocromatose/metabolismo; Hemocromatose/patologia; Humanos; Ferro/metabolismo; Sobrecarga de Ferro/genética; Sobrecarga de Ferro/metabolismo; Itália; Mutação; Receptores da Transferrina/genética; Receptores da Transferrina/metabolismo

Palavras-chave

Hereditary hemochromatosis; Iron overload; Mediterranean area; Non-HFE hereditary hemochromatosis; Novel mutations; TFR2

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores da Transferrina / Hemocromatose Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2014 Tipo de documento: Article

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