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Coinheritance of Hb City of Hope (HBB: c.208G>A) and ß-Thalassemia: Compromising the Molecular Diagnosis of the Codons 71/72 (+A) (HBB: c.216_217insA) Mutation by Reverse Dot-Blot Hybridization.
Zhou, Jian-Ying; Jiang, Fan; Li, Jian; Chen, Gui-Lan; Li, Dong-Zhi.
Afiliação
  • Zhou JY; a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
  • Jiang F; a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
  • Li J; a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
  • Chen GL; a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
  • Li DZ; a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
Hemoglobin ; 43(2): 145-147, 2019 Mar.
Article em En | MEDLINE | ID: mdl-31268351
More than 900 abnormal hemoglobin (Hb) ß chain variants have now been characterized. The majority are due to point mutations resulting in a single amino acid substitution within the globin gene involved, with nearly twice as many ß chain variants identified compared to α chain variants. Although most of these variants are clinically and hematologically silent, they can interact with different thalassemia mutations, which could sometimes render laboratory diagnostics in a routine setting difficult. In this study, we present a case of coinheritance of Hb City of Hope [ß69(E13)Gly→Ser; HBB: c.208G>A] and ß-thalassemia (ß-thal), that compromises the molecular diagnosis of ß-thal trait.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Códon / Hemoglobinas Anormais / Mutagênese Insercional / Talassemia beta / Globinas beta / Patologia Molecular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Códon / Hemoglobinas Anormais / Mutagênese Insercional / Talassemia beta / Globinas beta / Patologia Molecular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article