prikaz prve stranice dokumenta The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience
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Scientific paper - Original scientific paper
The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience
Children, 11 (2024), 7; 785. https://doi.org/10.3390/children11070785
Đordevic, Ana; Ugrin, Milena; Mrakovčić Šutić, Ines; Roganović, Jelena; Pavlović, Sonja

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Đordevic, A., Ugrin, M., Mrakovčić Šutić, I., Roganović, J. & Pavlović, S. (2024). The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience. Children, 11. (7). doi: 10.3390/children11070785

Đordevic, Ana, et al. "The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience." Children, vol. 11, no. 7, 2024. https://doi.org/10.3390/children11070785

Đordevic, Ana, Milena Ugrin, Ines Mrakovčić Šutić, Jelena Roganović and Sonja Pavlović. "The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience." Children 11, no. 7 (2024). https://doi.org/10.3390/children11070785

Đordevic, A., et al. (2024) 'The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience', Children, 11(7). doi: 10.3390/children11070785

Đordevic A, Ugrin M, Mrakovčić Šutić I, Roganović J, Pavlović S. The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience. Children [Internet]. 2024 June 27 [cited 2024 November 22];11(7). doi: 10.3390/children11070785

A. Đordevic, M. Ugrin, I. Mrakovčić Šutić, J. Roganović and S. Pavlović, "The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience", Children, vol. 11, no. 7, June 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:797077. [Accessed: 22 November 2024]

Metadata
Title (english)The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience
AuthorAna Đordevic
AuthorMilena Ugrin
AuthorInes Mrakovčić Šutić
AuthorJelena Roganović
AuthorSonja Pavlović
Author's institutionUniversity of Rijeka
Faculty of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
(1) Background: Thalassemia syndromes are common monogenic disorders that represent a significant global health issue. No systematic epidemiological or molecular investigations on thalassemias in the Croatian population have been reported to date. (2) Methods: This prospective study included 70 children with a presumptive diagnosis of thalassemia and their 42 first-degree relatives. Molecular characterization was performed using direct sequencing and gap-PCR methods. (3) Results: We identified 46 (30 children and 16 first-degree relatives) β-thalassemia heterozygous carriers from 24 unrelated families, carrying eight different mutations and one hemoglobin variant. Five variants account for approximately 85% of all affected β-globin alleles: Hb Lepore-Boston-Washington (32.6%), HBB:c.93-21G>A (19.6%), HBB:c.315+1G>A (13.1%), HBB:c.92+1G>A (10.9%), and HBB:c.92+6T>C (8.7%) variants. (4) Conclusions: β-thalassemia carriers need more detailed genetic profiling since genetic modifiers can significantly impact their phenotype. Our study provides important new insights into the relevance of β-thalassemia heterozygosity in pediatric clinical practice.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleChildren
Numberingvol. 11, no. 7, 785
e-ISSN2227-9067
DOIhttps://doi.org/10.3390/children11070785
URN:NBNurn:nbn:hr:184:797077
Publication2024-06-27
Document URLhttps://www.mdpi.com/2227-9067/11/7/785
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2024-11-11 09:44:13