ArticleMolecular biology reports2021
Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
Article in Molecular biology reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.Annals of hematology · 2025Article
- Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.Frontiers in genetics · 2025Article
- Internal validation of the GA118-24B Genetic Analyzer, a stable capillary electrophoresis system for forensic DNA identification.International journal of legal medicine · 2024Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThalassemia is one of the most prevalent worldwide autosomal recessive disorders characterized by a great molecular and clinical expression heterogeneity. Alpha and beta-thalassemia are the main two types observed in case of mutations affecting alpha and beta-globin genes respectively. Delta-thalassemia is noted when mutations occur on the delta-globin gene. In Tunisia, β-thalassemia prevalence is estimated at 2.21% of carriers. However, few reports investigated the delta-globin gene.
objectivesIn this work, we aimed to perform a molecular study to help define the molecular spectrum of δ-thalassemia mutations in Tunisia. PATIENTS AND
methodsThe study involved 7558 patients among whom we selected 179 individuals with abnormal HbA
resultsWe identified four mutations: HbA2-Yialousa described for the first time in Tunisia ( in 72.72% of cases) and 3 mutations reported for the first time in the world: (i) c.442 T > C Stop147Arg ext 15aa-stop observed in 18.18% of cases, (ii) c.187 G > C (Ala62Pro) noted in 4.54% of cases and (iii) c.93-1G > C found in 4.54% of cases.
conclusionOur data provide genetic basis that would be especially useful in screening for beta-thalassemia trait during delta-beta thalassemia associations.
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