Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) Causing Nondeletional α-Thalassemia in a Chinese Family

Can Liao Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People’s Republic of ChinaCorrespondence[email protected] [email protected]

Hai-Shen Tang Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People’s Republic of China

Ru Li Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People’s Republic of China

Dong-Zhi Li Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People’s Republic of ChinaCorrespondence[email protected] [email protected]

Abstract

We report a novel α-globin gene point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a GTG>GCG substitution at codon 62 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).

Keywords

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) Causing Nondeletional α-Thalassemia in a Chinese Family

Information for

Open access

Opportunities

Help and information

Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) Causing Nondeletional α-Thalassemia in a Chinese Family

Abstract

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date

Your download is now in progress and you may close this window

Login or register to access this feature