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A novel case of Hb Phnom Penh: codons 117/118 (+ATC) as a cause of α+ -thalassemia

Yin-Sheng Zhai1, Hai-Shen Tang, Jian-Ying Zhou

  • 1Department of Obstetrics and Gynecology, Nanlang Hospital of Zhongshan City, Zhongshan, Guangdong, People's Republic of China.

Hemoglobin
|March 22, 2012
PubMed

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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