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

Authors: Zhai, Yin-Sheng¹; Tang, Hai-Shen²; Zhou, Jian-Ying²; Li, Dong-Zhi²

Source: Hemoglobin, Volume 36, Number 3, June 2012 , pp. 289-292(4)

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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).

Keywords: α-Thalassemia (α-thal); Hb Phnom Penh; In-frame mutation

Document Type: Short communication

DOI: http://dx.doi.org/10.3109/03630269.2012.665402

Affiliations: 1: 1Department of Obstetrics and Gynecology, Nanlang Hospital of Zhongshan City, Zhongshan, Guangdong, People's Republic of China 2: 2Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China

Publication date: 2012-06-01

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