title: A novel case of Hb Phnom Penh: codons 117/118 (+ATC) as a cause of α+ -thalassemia.
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).
authors.affiliation: Department of Obstetrics and Gynecology, Nanlang Hospital of Zhongshan City, Zhongshan, Guangdong, People's Republic of China.
authors.forename: Yin-Sheng
authors.initials: YS
authors.lastname: Zhai
authors.forename: Hai-Shen
authors.initials: HS
authors.lastname: Tang
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D016254:Mutagenesis, Insertional; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C119639:hemoglobin Phnom Penh