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Contenu archivé le 2022-12-23

Systeme de sante et prevention des maladies genetiques : application aux maladies de l'hemoglobine

Objectif


- To evaluate the economic cost of two major genetically inherited diseases;
- To evaluate the social perception of the concept of genetic diseases and the eventual request for prevention through prenatal diagnosis;
- To define the spectrum of the mutations causing hemoglobinopathies in Tunisia and Morocco and to compare the current techniques available for detecting the mutations and performing the prenatal diagnosis (costs, reproducibility, rapidity, etc.).
Expected Outcome

- The economic cost of thalassemia and sickle cell anaemia, two genetically inherited diseases, will be assessed as well as the social perception of these diseases;
- A diagnosis technique will be developed, able to identify the critical gene mutation and hence allowing for prenatal diagnosis under the conditions in the most affected countries.

- Economic costs of Thalassemia and drepanocytosis will be estimated by a retrospective analysis of about 100 patients medical files. This analysis will include the study of various parameters such as expenses during hospitalisation and expenses during ambulatory treatment as well as indirect costs;
- The social perception will be studied by a group of social workers and psychologists on a sample of patients affected with hemoglobinopathies as well as on a control groups in both countries;
- The gene mutation will be characterised by various techniques such as PCR or ASO. The techniques used will be compared to find out which one would be the most adapted to performing the prenatal diagnosis under field conditions. The use of non radioactive probes will be evaluated.

Thème(s)

Data not available

Appel à propositions

Data not available

Régime de financement

CSC - Cost-sharing contracts

Coordinateur

Institut National de la Santé et de la Recherche Médicale (INSERM)
Contribution de l’UE
Aucune donnée
Adresse
51 avenue du Maréchal de Lattre de Tassigny
94010 Créteil
France

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Coût total
Aucune donnée

Participants (2)