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. 2021 Nov 19;12(11):1820.
doi: 10.3390/genes12111820.

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Nessrine Mezzi  1   2 , Olfa Messaoud  1 , Rahma Mkaouar  1 , Nadia Zitouna  1 , Safa Romdhane  1 , Ghaith Abdessalem  1 , Cherine Charfeddine  1   3 , Faouzi Maazoul  4 , Ines Ouerteni  4 , Yosr Hamdi  1   5 , Anissa Zaouak  6 , Ridha Mrad  4 , Sonia Abdelhak  1 , Lilia Romdhane  1   2
Affiliations

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Nessrine Mezzi et al. Genes (Basel). .

Abstract

Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

Keywords: Tunisian population; consanguinity; database; genetic diseases; public health.

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Conflict of interest statement

The authors declare that they have no conflict of interest regarding this study.

Figures

Figure 1
Figure 1
Screening process workflow.
Figure 2
Figure 2
WHO ICD-10 classification of genetic diseases.
Figure 3
Figure 3
Classification according to the inheritance mode of the whole spectrum of genetic disorders (AR: Autosomal Recessive; AD: Autosomal Dominant; XL: X-linked; Spo: Sporadic; Mito: Mitochondrial; YL: Y-linked).
See this image and copyright information in PMC

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