Detection of a Rare Mutation in An Iranian Family: Codons 37/38/39 (7 bp Deletion)

Abstract

We recently found a rare β⁰-thalassemia (β⁰-thal) mutation, namely codons 37/38/39 (−GACCCAG), in a consanguineous family from southeast Iran. The first cousin couple was heterozygous for the mutation. They had a healthy 4-year-old daughter and were referred to us for prenatal diagnosis at 6 weeks gestation in the second pregnancy. The fetus, based on results of sequencing of the β-globing gene, was homozygous for the same mutation. Results of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) on detection of this 7 bp deletion, and also restriction fragment length polymorphism (RFLP) analysis confirmed the homozygosity of the fetus.

Keywords:

• β-Thalassemia (β-thal)
• Southeast Iran
• Rare mutation
• Deletion

ACKNOWLEDGMENTS

We wish to thank J. Rostaee and S. Shafeie (Zahedan University of Medical Sciences, Ali-Asghar Hospital, Zahedan, Iran) for their technical assistance and also Dr. M. Javadzadeh (Shaheed Beheshti University of Medical Sciences, Emam Hosein Hospital, Tehran, Iran) for his critical revision of the manuscript.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.