Mohammad Ehsan Jaripour1#, Kourosh Hayatigolkhatmi1#, Vahid Iranmanesh1, Farhad Khadivi Zand1, Zahra Badiei2, Hamid Farhangi2, Ali Ghasemi2, Abdollah Banihashem2, Reza Jafarzadeh Esfehani3 and Ariane Sadr-Nabavi1,3,4*.
1 Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.
2 Department of Pediatric Diseases, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
3 Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
4 Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
# These authors contributed equally to this work.
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Background and Objective: ß-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β (HBB)
gene. In a study of β-thalassemia carriers and some of their at-risk
fetuses in the Khorasan province of Iran, we aimed to recognize the
most common mutations in the region. We also investigated a possible
link between these mutations and some of the relevant hematological
Material and Methods
|Figure 1. The 10 x 10 dot
plot, showing the prevalence of ß-thalassemia mutations among 1273
ß-thalassemia carriers detected in the ACECR medical genetics
laboratory of Mashhad, during 7 years. The ratios are as follows:
IVS-I-5 (42.03%), IVS-II-1 (11.23%), codons 8/9 (4.79%), codon 44
(4.56%), codon 15 (3.53%), Los Angeles (2.91%), codon 5 (2.75%),
IVS-I-110 (2.51%), -88 (2.20%), IVS-I-6 (1.81%), codon 39 (1.73%),
IVS-II-745 (1.49%), -29 (1.49%), δβ (1.41%), 25bp deletion (1.41%), HbS
(1.34%) and all other detected mutations consisted 12.80% of all of the
reported pathogenic variants.
|Table 1. Mean values of the relevant CBC indices and Hb subtypes among the studied population, carrying one of the first nine mostly common HBB pathogenic variants reported in the Khorasan province. The total number of studied individuals is indicated in parenthesis under mutations’ names. Hb subtypes are reported as a percent of the total Hb amount of the individuals’ PB sample. dL: deciliter; fL: femtoliter; gm: grams; mcL: microliter; p: p-value; pg: picogram. * Significant difference at α=0.05.ǂ The Kruskal Wallis test was used for the comparison while other parameters were compared between groups using the ANOVA test.|