Profile of β-Thalassemia and its Prenatal Diagnosis in Khorasan-E-Jonobi Province, Iran

Abstract

This study was performed to determine the molecular spectrum of β-thalassemia (β-thal) mutations in at-risk couples from Khorasan-e-Jonobi Province in East Iran. During the past 9 years, 106 couples were referred to our Center for detection of their β-thal carrier status. Samples were initially tested for the most common Iranian α- and β-thal mutations by gap-polymerase chain reaction (gap-PCR) and amplification refractory mutation system (ARMS)-PCR, respectively. In cases with negative results, direct DNA sequencing was used to identify additional β-globin mutations. Fetal DNA was obtained from chorionic villus sampling (CVS) (n = 55), 47.2% were referred during pregnancy and 23.0% of couples underwent more than one prenatal diagnosis (PND). Of the 14 mutations that were detected in Khorasan-e-Jonobi Province, Iran, the IVS-I-5 (G>C) and codon 44 (−C) mutations were the most frequently identified variants, representing 45.9 and 24.8% of the total; these were followed by three mutations in the following order: −88 (C >T) (5.3%); codons 8/9 (+G), a rare mutation, and codons 37/38/39 [–7 nucleotides (nts)], each with a frequency of 4.5%. These findings provide complementary information on the region specific profile of β-thal in eastern Iran.

• β-Thalassemia (β-thal)
• Mutation
• Prenatal diagnosis
• Khorasan-e-Jonobi Province
• Iran

ACKNOWLEDGMENTS

We thank the consultant physicians and the couples at-risk for their cooperation, primary health care center teams (affiliated to Birjand University of Medical Sciences, Birjand, Iran) who referred the couples to us, and our colleagues at the Thalassemia Prenatal Diagnosis Center at Ali-Asghar Hospital (affiliated to Zahedan University of Medical Sciences, Zahedan, Iran). We would also like to acknowledge Ms. Nilufar Shiva (Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Behshti University of Medical Sciences, Tehran, Iran) for editing the language 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.