Version 1
: Received: 16 May 2024 / Approved: 16 May 2024 / Online: 16 May 2024 (12:59:00 CEST)
Version 2
: Received: 16 May 2024 / Approved: 17 May 2024 / Online: 20 May 2024 (09:30:25 CEST)
How to cite:
Dordevic, A.; Ugrin, M.; Sutic, I. M.; Roganovic, J.; Pavlovic, S. The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience. Preprints2024, 2024051110. https://doi.org/10.20944/preprints202405.1110.v1
Dordevic, A.; Ugrin, M.; Sutic, I. M.; Roganovic, J.; Pavlovic, S. The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience. Preprints 2024, 2024051110. https://doi.org/10.20944/preprints202405.1110.v1
Dordevic, A.; Ugrin, M.; Sutic, I. M.; Roganovic, J.; Pavlovic, S. The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience. Preprints2024, 2024051110. https://doi.org/10.20944/preprints202405.1110.v1
APA Style
Dordevic, A., Ugrin, M., Sutic, I. M., Roganovic, J., & Pavlovic, S. (2024). The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience. Preprints. https://doi.org/10.20944/preprints202405.1110.v1
Chicago/Turabian Style
Dordevic, A., Jelena Roganovic and Sonja Pavlovic. 2024 "The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience" Preprints. https://doi.org/10.20944/preprints202405.1110.v1
Abstract
Thalassemia syndromes are common monogenic disorders that represent a significant global health issue. No systematic epidemiological and molecular investigations on thalassemias in Croatian population have been reported to date. 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. 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 variant (8,7%). A need for more detailed genetic profiling of β-thalassemia carriers is emphasized since genetic modifiers can significantly impact their phenotype. Our study provides important new insights into the relevance of β-thalassemia heterozygosity in the pediatric clinical practice.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
