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]

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

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

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