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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 2
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A Novel α-Thalassemia Frameshift Mutation: Codon 8 (–C)

Hai-Shen TangPrenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China
,
Jian-Ying ZhouPrenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China
,
Xing-Mei XiePrenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China
,
Ru LiPrenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China
,
Can LiaoPrenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China
&
Dong-Zhi LiPrenatal 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]
Pages 192-195 | Received 16 Jul 2011, Accepted 26 Jul 2011, Published online: 13 Jan 2012
 
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Abstract

We report a novel α-thalassemia (α-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (–C) in exon 1 of the α2-globin gene. This mutation causes an α+-thal phenotype.

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