A novel &#945; Globin Gene Cluster Duplication, &#945;&#945;&#945;&#945;<sup>380</sup> Heterozygous ß<sup>0</sup>-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.

Long, Ju; Gong, Feifei; Sun, Lei; Yu, Chunhui; Liu, Enqi

A novel α Globin Gene Cluster Duplication, αααα³⁸⁰ Heterozygous ß⁰-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.

Long, Ju; Gong, Feifei; Sun, Lei; Yu, Chunhui; Liu, Enqi.

Afiliação

Long J; Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR China.
Gong F; School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, China.
Sun L; Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR China.
Yu C; Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR China.
Liu E; School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, China.

Hemoglobin ; 47(2): 25-30, 2023 Nov.

Article em En | MEDLINE | ID: mdl-37194740

Assuntos

Talassemia; Talassemia alfa; Talassemia beta; Masculino; Humanos; Genótipo; Talassemia/genética; Talassemia beta/diagnóstico; Talassemia beta/genética; Talassemia beta/terapia; Fenótipo; Família Multigênica; Transfusão de Sangue; alfa-Globinas/genética; Talassemia alfa/diagnóstico; Talassemia alfa/genética; Talassemia alfa/epidemiologia

Palavras-chave

Guangxi; Thalassemia; transfusion-dependent thalassemia; α-globin gene quadruplication; ß0-thalassemia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia / Talassemia beta / Talassemia alfa Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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