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Mutation Spectrum of Hemoglobinopathies in Tunisia.

Human mutation - 1 Jan 2026

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

Abstract excerpt

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...

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Identifiers

PMID: 42253506
DOI: 10.1155/humu/6126372
PMCID: PMC13239093

Genes

HBD
HBB

Variants

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