Evidence map›Paper›PMID 42253506›Full record

ArticleHuman mutation2026

Mutation Spectrum of Hemoglobinopathies in Tunisia.

Imen Moumni, Khouloud Khalfaoui, Mariem Chebbi, Leila Chaouch, Houyem Ouragini, Dorra Chaouechi, Fethi Mellouli, Monia Ouederni, Monia Benkhaled, Salem Abbes and 1 more

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Imen MoumniLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0000-0003-0914-3916
Khouloud KhalfaouiLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0000-0003-1938-0165
Mariem ChebbiLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0009-0007-4641-5323
Leila ChaouchLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0000-0002-0725-7429
Houyem OuraginiLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0000-0003-2427-2804
Dorra ChaouechiLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0009-0006-3657-8375
Fethi MellouliDepartment of Pediatrics: Immunology, Hematology, and Stem Cell Transplantation Bone Marrow Transplant Center, Tunis, Tunisia.ORCID https://orcid.org/0000-0001-8369-3655
Monia OuederniDepartment of Pediatrics: Immunology, Hematology, and Stem Cell Transplantation Bone Marrow Transplant Center, Tunis, Tunisia.ORCID https://orcid.org/0000-0003-3642-6743
Monia BenkhaledDepartment of Pediatrics: Immunology, Hematology, and Stem Cell Transplantation Bone Marrow Transplant Center, Tunis, Tunisia.ORCID https://orcid.org/0000-0003-3629-7515
Salem AbbesLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.ORCID https://orcid.org/0000-0002-0863-0491
Samia MenifLaboratory of Molecular and Cellular Hematology (HMC), Institut Pasteur de Tunis, University of Tunis Elmanar, Tunis, Tunisia, pasteur.tn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Hemoglobinopathies are the most prevalent recessive disorders worldwide, characterized by wide molecular and clinical heterogeneity. They result from mutations within the alpha-, beta-, or delta-globin gene leading to aberrant expression or protein function. These abnormalities are widely spread throughout the Mediterranean basin. Due to their severity and disabling nature, hemoglobinopathies represent a major public health problem. Mutational screening of abnormal hemoglobins (Hbs) allows the creation of a mutation map, which forms the basis for a potential national prevention program in Tunisia. Methods: A total of 260 Tunisian subjects were investigated using biochemical and molecular analyses to identify defects in the globin genes (HBA, HBB, and HBD). The study is aimed at determining the molecular spectrum of hemoglobinopathies and contributing to the development of a comprehensive Hb mutation map in Tunisia. Results: Twenty-one Conclusion: This study provides an updated overview of

Indexed as

HemoglobinopathiesHemoglobins, AbnormalMutationAdultbeta-Globinsbeta-ThalassemiaChildDNA Mutational AnalysisFemaleHumansMaleTunisiabeta-GlobinsHemoglobins, Abnormaldelta-globinHb varianthemoglobinopathiesβ-thalassemia (thal)

Identifiers

PMID42253506
PMCPMC13239093

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.