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Master Thesis

Dépistage du trait drépanocytaire en médecine générale, retour d’une année d’expérience dans le Nord-Est parisien

Abstract : Background: sickle cell disease (SCD) is the first genetic disease in France. Screening sickle cell carriers is possible with heamoglobin study and must be done before a possible pregnancy. Couples at risk can anticipate and decide if they want to acces to genetic counselling and antenatal diagnosis for a pregnancy. This study comes back to one year of experience of sickle cell carriers screening by general practitioners. The objective is to study the participation and to analyse the results. Methods: this prospective multicenter study includes 166 patients native of a region at risk for SCD, in childbearing age. Results : 66,9% of the patients did the heamoglobin study. The child number is the only decisive factor in the realization of the screening test (p=0,0099), unlike age, sex, native country, familial situation, social protection, current pregnancy, the reason for consulting. Among the 111 patients who have made the test, 75,7% are AA, 16,2% are AS and 8,1% are silent carriers of an other heamoglobin disorder. Heterozygous patients are more likely to wish screening for their near relations. Conclusion: screening of sickle cell carriers is well accepted by the patients and is a good way to make the disease be known for the population at risk. A specific formation for the practitioners is an essential prerequisite.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01583269
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Submitted on : Thursday, September 7, 2017 - 10:28:05 AM
Last modification on : Friday, March 27, 2020 - 2:46:57 AM

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  • HAL Id : dumas-01583269, version 1

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Aurélie Colmant. Dépistage du trait drépanocytaire en médecine générale, retour d’une année d’expérience dans le Nord-Est parisien. Médecine humaine et pathologie. 2016. ⟨dumas-01583269⟩

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