Molecular basis of thalassemia syndromes in Serbia: an update
2023
Преузимање 🢃
Аутори
Ugrin, MilenaKomazec, Jovana
Klaassen, Kristel
Skakić, Anita
Anđelković, Marina
Spasovski, Vesna
Stevanović, Nina
Parezanović, Marina
Stanković, Sara
Stojiljković, Maja
Pavlović, Sonja
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Introduction: Thalassemia syndromes are heterogeneous group of hereditary anemias characterized
by defects in the synthesis of hemoglobin (Hb) polypeptide chains. These disorders comprise thalassemias and thalassemic hemoglobin variants which are predominantly caused by mutationsin a- and
b-globin genes (HBA and HBB genes). Clinical manifestations of thalassemia syndromes range from
asymptomatic thalassemia minor to severe anemia in thalassemia major cases. The aim of thisstudy was
to update our previous findings on frequency of thalassemia mutations which result from a 13-year-old
systematic survey in Serbia.
Methods: Two hundred and fourteen patients from 149 unrelated families presented with hematological parameters indicative of thalassemia syndromes were studied. Detection of α- and β-globin gene
mutations was performed using PCR and direct sequencing.
Results: Two Hb variants and twelve different β-thalassemia mutations, including two mutations previously not reported in ...Serbian population, were detected. Hb variant Lepore Boston-Washington wasthe
most common cause of thalassemia, with frequency of 24.3%, followed by HBB:c.316-106C>G mutation
detected in 18.1% of families. The third most frequent cause of β-thalassemia were HBB:c.118C>T and
HBB:c.93-21G>A mutations with 16.6% incidence each. Together, these four variants account for over
75% of all mutated β-globin alleles. In addition, five families affected with α-thalassemia were detected.
Conclusion: Despite the increase in cohort size by 50% between this and our previous studies, the frequency of mutations affecting HBB gene remained unchanged. Results presented in this study will update Serbian national mutation database and contribute to better understanding of geographic history
of South European and Balkan populations.
Кључне речи:
thalassemia syndromes / Hb variants / β-thalassemia mutations / SerbiaИзвор:
CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia, 2023, 86-86Издавач:
- Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
Финансирање / пројекти:
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200042 (Универзитет у Београду, Институт за молекуларну генетику и генетичко инжењерство) (RS-MESTD-inst-2020-200042)
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Ugrin, Milena AU - Komazec, Jovana AU - Klaassen, Kristel AU - Skakić, Anita AU - Anđelković, Marina AU - Spasovski, Vesna AU - Stevanović, Nina AU - Parezanović, Marina AU - Stanković, Sara AU - Stojiljković, Maja AU - Pavlović, Sonja PY - 2023 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2139 AB - Introduction: Thalassemia syndromes are heterogeneous group of hereditary anemias characterized by defects in the synthesis of hemoglobin (Hb) polypeptide chains. These disorders comprise thalassemias and thalassemic hemoglobin variants which are predominantly caused by mutationsin a- and b-globin genes (HBA and HBB genes). Clinical manifestations of thalassemia syndromes range from asymptomatic thalassemia minor to severe anemia in thalassemia major cases. The aim of thisstudy was to update our previous findings on frequency of thalassemia mutations which result from a 13-year-old systematic survey in Serbia. Methods: Two hundred and fourteen patients from 149 unrelated families presented with hematological parameters indicative of thalassemia syndromes were studied. Detection of α- and β-globin gene mutations was performed using PCR and direct sequencing. Results: Two Hb variants and twelve different β-thalassemia mutations, including two mutations previously not reported in Serbian population, were detected. Hb variant Lepore Boston-Washington wasthe most common cause of thalassemia, with frequency of 24.3%, followed by HBB:c.316-106C>G mutation detected in 18.1% of families. The third most frequent cause of β-thalassemia were HBB:c.118C>T and HBB:c.93-21G>A mutations with 16.6% incidence each. Together, these four variants account for over 75% of all mutated β-globin alleles. In addition, five families affected with α-thalassemia were detected. Conclusion: Despite the increase in cohort size by 50% between this and our previous studies, the frequency of mutations affecting HBB gene remained unchanged. Results presented in this study will update Serbian national mutation database and contribute to better understanding of geographic history of South European and Balkan populations. PB - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade C3 - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia T1 - Molecular basis of thalassemia syndromes in Serbia: an update EP - 86 SP - 86 UR - https://hdl.handle.net/21.15107/rcub_imagine_2139 ER -
@conference{ author = "Ugrin, Milena and Komazec, Jovana and Klaassen, Kristel and Skakić, Anita and Anđelković, Marina and Spasovski, Vesna and Stevanović, Nina and Parezanović, Marina and Stanković, Sara and Stojiljković, Maja and Pavlović, Sonja", year = "2023", abstract = "Introduction: Thalassemia syndromes are heterogeneous group of hereditary anemias characterized by defects in the synthesis of hemoglobin (Hb) polypeptide chains. These disorders comprise thalassemias and thalassemic hemoglobin variants which are predominantly caused by mutationsin a- and b-globin genes (HBA and HBB genes). Clinical manifestations of thalassemia syndromes range from asymptomatic thalassemia minor to severe anemia in thalassemia major cases. The aim of thisstudy was to update our previous findings on frequency of thalassemia mutations which result from a 13-year-old systematic survey in Serbia. Methods: Two hundred and fourteen patients from 149 unrelated families presented with hematological parameters indicative of thalassemia syndromes were studied. Detection of α- and β-globin gene mutations was performed using PCR and direct sequencing. Results: Two Hb variants and twelve different β-thalassemia mutations, including two mutations previously not reported in Serbian population, were detected. Hb variant Lepore Boston-Washington wasthe most common cause of thalassemia, with frequency of 24.3%, followed by HBB:c.316-106C>G mutation detected in 18.1% of families. The third most frequent cause of β-thalassemia were HBB:c.118C>T and HBB:c.93-21G>A mutations with 16.6% incidence each. Together, these four variants account for over 75% of all mutated β-globin alleles. In addition, five families affected with α-thalassemia were detected. Conclusion: Despite the increase in cohort size by 50% between this and our previous studies, the frequency of mutations affecting HBB gene remained unchanged. Results presented in this study will update Serbian national mutation database and contribute to better understanding of geographic history of South European and Balkan populations.", publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade", journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia", title = "Molecular basis of thalassemia syndromes in Serbia: an update", pages = "86-86", url = "https://hdl.handle.net/21.15107/rcub_imagine_2139" }
Ugrin, M., Komazec, J., Klaassen, K., Skakić, A., Anđelković, M., Spasovski, V., Stevanović, N., Parezanović, M., Stanković, S., Stojiljković, M.,& Pavlović, S.. (2023). Molecular basis of thalassemia syndromes in Serbia: an update. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 86-86. https://hdl.handle.net/21.15107/rcub_imagine_2139
Ugrin M, Komazec J, Klaassen K, Skakić A, Anđelković M, Spasovski V, Stevanović N, Parezanović M, Stanković S, Stojiljković M, Pavlović S. Molecular basis of thalassemia syndromes in Serbia: an update. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:86-86. https://hdl.handle.net/21.15107/rcub_imagine_2139 .
Ugrin, Milena, Komazec, Jovana, Klaassen, Kristel, Skakić, Anita, Anđelković, Marina, Spasovski, Vesna, Stevanović, Nina, Parezanović, Marina, Stanković, Sara, Stojiljković, Maja, Pavlović, Sonja, "Molecular basis of thalassemia syndromes in Serbia: an update" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):86-86, https://hdl.handle.net/21.15107/rcub_imagine_2139 .