Article

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

2024-05-20

Abstract excerpt

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 sequenci...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2f2c368d-f775-5e36-9b5b-10b1b3a6facc
DOI: 10.20944/preprints202405.1110.v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian ExperienceDOI 10.20944/preprints202405.1110.v2Read

Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.Semantic proximity Read

β-THALASSEMIA IN TURKEY: A REVIEW OF THE CLINICAL, EPIDEMIOLOGICAL, MOLECULAR, AND EVOLUTIONARY ASPECTSSemantic proximity Read

Thalassemia syndromes in Serbia: an update.Semantic proximity Read

Global distribution of β-thalassemia mutations: An update.Semantic proximity Read

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.Semantic proximity Read

β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study.Semantic proximity Read

Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.Semantic proximity Read

β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.Semantic proximity Read

Rare beta-thalassemia mutations are cause of concern.Semantic proximity Read

Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.Semantic proximity Read

The Molecular Spectrum of Alpha- and Beta-Thalassemia Mutations in Indonesia: Implications for National Screening and PreventionSemantic proximity Read

Genotypic Characterization of Hemoglobinopathies in Azerbaijan: A Review of 10 Years at a Referral Center.Semantic proximity Read