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

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 di...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Nessrine Mezzi, Olfa Messaoud, Rahma Mkaouar, Nadia Zitouna, Safa Romdhane, Ghaith Abdessalem, Cherine Charfeddine, Faouzi Maazoul, Ines Ouerteni, Yosr Hamdi, Anissa Zaouak, Ridha Mrad, Sonia Abdelhak, Lilia Romdhane
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	genetic diseases Tunisian population public health consanguinity database Genetics QH426-470
Acceso en línea:	https://doaj.org/article/8c192ae98d8e4ed0986b92461f668f4b
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:8c192ae98d8e4ed0986b92461f668f4b
record_format	dspace
spelling	oai:doaj.org-article:8c192ae98d8e4ed0986b92461f668f4b2021-11-25T17:42:22ZSpectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved10.3390/genes121118202073-4425https://doaj.org/article/8c192ae98d8e4ed0986b92461f668f4b2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1820https://doaj.org/toc/2073-4425Genetic 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.Nessrine MezziOlfa MessaoudRahma MkaouarNadia ZitounaSafa RomdhaneGhaith AbdessalemCherine CharfeddineFaouzi MaazoulInes OuerteniYosr HamdiAnissa ZaouakRidha MradSonia AbdelhakLilia RomdhaneMDPI AGarticlegenetic diseasesTunisian populationpublic healthconsanguinitydatabaseGeneticsQH426-470ENGenes, Vol 12, Iss 1820, p 1820 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	genetic diseases Tunisian population public health consanguinity database Genetics QH426-470
spellingShingle	genetic diseases Tunisian population public health consanguinity database Genetics QH426-470 Nessrine Mezzi Olfa Messaoud Rahma Mkaouar Nadia Zitouna Safa Romdhane Ghaith Abdessalem Cherine Charfeddine Faouzi Maazoul Ines Ouerteni Yosr Hamdi Anissa Zaouak Ridha Mrad Sonia Abdelhak Lilia Romdhane Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
description	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.
format	article
author	Nessrine Mezzi Olfa Messaoud Rahma Mkaouar Nadia Zitouna Safa Romdhane Ghaith Abdessalem Cherine Charfeddine Faouzi Maazoul Ines Ouerteni Yosr Hamdi Anissa Zaouak Ridha Mrad Sonia Abdelhak Lilia Romdhane
author_facet	Nessrine Mezzi Olfa Messaoud Rahma Mkaouar Nadia Zitouna Safa Romdhane Ghaith Abdessalem Cherine Charfeddine Faouzi Maazoul Ines Ouerteni Yosr Hamdi Anissa Zaouak Ridha Mrad Sonia Abdelhak Lilia Romdhane
author_sort	Nessrine Mezzi
title	Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
title_short	Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
title_full	Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
title_fullStr	Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
title_full_unstemmed	Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
title_sort	spectrum of genetic diseases in tunisia: current situation and main milestones achieved
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/8c192ae98d8e4ed0986b92461f668f4b
work_keys_str_mv	AT nessrinemezzi spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT olfamessaoud spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT rahmamkaouar spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT nadiazitouna spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT safaromdhane spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT ghaithabdessalem spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT cherinecharfeddine spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT faouzimaazoul spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT inesouerteni spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT yosrhamdi spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT anissazaouak spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT ridhamrad spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT soniaabdelhak spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved AT liliaromdhane spectrumofgeneticdiseasesintunisiacurrentsituationandmainmilestonesachieved
_version_	1718412116760723456

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

Ejemplares similares