Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare &#945;2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study.

Guan, Zhi-Yang; Zhong, Ze-Yan; He, Hai-Lin; Chen, Dan; Zhong, Guo-Xing; Yang, Kun-Xiang; Chen, Jian-Hong

Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study.

Guan, Zhi-Yang; Zhong, Ze-Yan; He, Hai-Lin; Chen, Dan; Zhong, Guo-Xing; Yang, Kun-Xiang; Chen, Jian-Hong.

Afiliação

Guan ZY; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China.
Zhong ZY; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China.
He HL; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China.
Chen D; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China.
Zhong GX; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China.
Yang KX; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China.
Chen JH; Prenatal Diagnosis Center, The First Women and Children's Hospital of Huizhou, Huizhou, Guangdong Province, China. Electronic address: cjhong2004@hotmail.com.

Taiwan J Obstet Gynecol ; 60(4): 763-765, 2021 Jul.

Article em En | MEDLINE | ID: mdl-34247821

Assuntos

Aconselhamento Genético; Diagnóstico Pré-Natal/métodos; alfa-Globinas/genética; Talassemia alfa/diagnóstico; Talassemia alfa/genética; Criança; Pré-Escolar; Códon; Feminino; Deleção de Genes; Humanos; Lactente; Recém-Nascido; Masculino; Mutação; Gravidez; Adulto Jovem

Palavras-chave

Codon 30 mutation; DNA sequencing; Genetic counseling; Hb H disease; Prenatal decision

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Talassemia alfa / Alfa-Globinas / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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