Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey

Arpacı, Abdullah; Gül, Bahar Ünlü; Özcan, Oğuzhan; İlhan, Gül; El, Çiğdem; Dirican, Emre; Elmacioglu, Sibel; Kaya, Hasan

doi:10.1007/s00277-021-04509-9

Cited by 5 publications

(1 citation statement)

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“…Also, different regions in Turkey show diverse frequencies of different β-thal genotypes. The Çukurova region, where we are located, stands out with a higher case population in terms of thalassemias compared to other regions in Turkey [6][7][8] . For example, the β-thal carrier prevalence was found to be 13% in the study conducted by Guvenc et al in the Adana province of Çukurova region, compared to the expected prevalence of 2.1% for the entire country 9,10 .…”

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confidence: 99%

Genotype-phenotype correlation and mutation spectrum of HBB gene in the Hatay province of Turkey

Kaçmaz,

Aşıkovalı

2024

Cukurova Medical Journal

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Purpose: Thalassemia carriage and hemoglobinopathies are quite common disorders in Turkey, especially in the Çukurova region, including Hatay province. Due to the high case population and genetic diversity in our region, this study aimed to investigate the genotype-phenotype correlation in the HBB gene. Materials and Methods: The data of patients who applied to Hatay Mustafa Kemal University Medical Genetics or Hematology Clinic between January 2010 and November 2022 were evaluated retrospectively. Results: A total of 40 (100%) cases, comprising 25 (62.5%) homozygous and 15 (37.5%) compound heterozygous genotypes, were included in the study based on the mutation profiles in the HBB gene. In the analysis of the cases, it was seen that there were 17 different variants and 22 distinct genotypes. The three most common variants identified in this study were IVS-I-6 (T>C), IVS-I-1 (G>A), and IVS-II-848 (C>A). Of the cases with homozygous genotypes, 13 (52%) had the IVS-I-6 (T>C) variant. The most frequent genotypes observed in cases with compound heterozygous genotype were IVS-I-6 (T>C)/IVS-I-110 (G>A), IVS-I-6 (T>C)/Hb Knossos, and IVS-I-110 (G>A)/-101 C>T, each in 2 (13%) cases. Conclusion: This study provides information on the phenotypic characteristics of very rare genotypes. We think that this information will be very beneficial, especially for clinicians interested in prenatal diagnosis, preimplantation genetic diagnosis, and postnatal genetic counseling.

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