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: Yin-Sheng Zhai, Hai-Shen Tang, Jian-Ying Zhou, Dong-Zhi Li
• Journal: Hemoglobin (Hemoglobin) Vol. 36 Issue 3 Pg. 289-92 ( 2012) ISSN: 1532-432X [Electronic] England
• PMID: 22432594 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon
• Hemoglobins, Abnormal
• alpha-Globins
• hemoglobin Phnom Penh

Topics

• Base Sequence
• Codon (genetics)
• DNA Mutational Analysis
• Exons (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant, Newborn
• Mutagenesis, Insertional
• alpha-Globins (genetics)
• alpha-Thalassemia (diagnosis, genetics)