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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 3
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Short Communication

A Novel Case of Hb Phnom Penh: Codons 117/118 (+ATC) as a Cause of α+-Thalassemia

Yin-Sheng ZhaiDepartment of Obstetrics and Gynecology, Nanlang Hospital of Zhongshan City, Zhongshan, Guangdong, People’s Republic of China
,
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
&
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]
Pages 289-292 | Received 28 Dec 2011, Accepted 30 Jan 2012, Published online: 20 Mar 2012
 
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Abstract

We report a novel case of Hb Phnom Penh [α117(GH5)Phe-Ile-α118(H1)Thr (α1)] detected through cord blood screening for hemoglobinopathies. Sequence analyses identified this in-frame mutation at codons 117/118 (+ATC) in exon 3 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).

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