Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (<i>HBB</i>: c.313delA) and Codons 41/42 (-CTTT) (<i>HBB</i>: c.126_129delCTTT) Leading to ß-Thalassemia Major in a Chinese Family.

Qiu, Yuling; Huang, Yuanyuan; Chen, Ping; Wei, Shilu; Su, Qisheng; Zhang, Zunni; Yang, Zheng; Ye, Lihua; Huang, Jun; Shen, Xuelian; Mo, Wuning

Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to ß-Thalassemia Major in a Chinese Family.

Qiu, Yuling; Huang, Yuanyuan; Chen, Ping; Wei, Shilu; Su, Qisheng; Zhang, Zunni; Yang, Zheng; Ye, Lihua; Huang, Jun; Shen, Xuelian; Mo, Wuning.

Afiliação

Qiu Y; Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Huang Y; Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Chen P; Department of Clinical Laboratory, Laibin Maternal and Child Health Care Hospital, Guangxi Zhuang Autonomous Region, People's Republic of China.
Wei S; Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Su Q; Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Zhang Z; Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Yang Z; Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Ye L; Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, People's Republic of China.
Huang J; Department of Clinical Laboratory, Laibin Maternal and Child Health Care Hospital, Guangxi Zhuang Autonomous Region, People's Republic of China.
Shen X; Department of Clinical Laboratory, Laibin Maternal and Child Health Care Hospital, Guangxi Zhuang Autonomous Region, People's Republic of China.
Mo W; Department of Clinical Laboratory, Laibin Maternal and Child Health Care Hospital, Guangxi Zhuang Autonomous Region, People's Republic of China.

Hemoglobin ; 44(6): 402-405, 2020 Nov.

Article em En | MEDLINE | ID: mdl-33198537

Assuntos

Povo Asiático/genética; Códon; Heterozigoto; Mutação; Globinas beta/genética; Talassemia beta/diagnóstico; Talassemia beta/genética; Alelos; Substituição de Aminoácidos; Criança; China; Análise Mutacional de DNA; Índices de Eritrócitos; Éxons; Feminino; Mutação da Fase de Leitura; Humanos; Masculino; Linhagem

Palavras-chave

HBB gene; compound heterozygote; frameshift mutation; nucleotide sequencing; ß-Thalassemia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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