title: 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.
authors.affiliation: Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. moghaddam4@yahoo.com
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Miri-Moghaddam
authors.forename: Azita
authors.initials: A
authors.lastname: Zadeh-Vakili
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D055544:beta-Globins