DRÉPANOCYTOSE
Une Maladie génétique du sang
START
SOMMAIRE
1. Présentation
2. Origine
3. Transmission
4. Perennité
5. Manifestations
6. Prise en charge
7. Traitement
9. Conclusion
8. Mode de vie
1. PRÉSENTATION
C'est quoi la drépanocytose ?
1 ere maladie génétique au monde
- 50 m (Afrique subsaharienne)
- France :
- Maladie génétique => hémoglobine
ORIGINE GÉNÉTIQUE
- mutation ponctuelle ( chrm 11 )
- le gène HBB ( bêta-globine )
- 20ᵉ nucléotide (A => T)
- acide glutamique => valine
- Hb A => Hb S (sickle = faucille)
TRANSMISSION
transmission autosomique récessif
Malade
Porteur sain
Indemne
• 25 % de chances S/S (homozygote muté)
• 25 % de chances A/A (homozygote sain)
• 50 % de chances S/A (hétérozygote)
PS: deux parents S/A
PÉRENNITÉ
Pourquoi cette mutation a-t-elle perduré ?
- sélection naturelle
- individus hétérozygotes S/A
- paludisme
- zones tropicales / arrides
- avantage survie
- Antilles, Inde, Afrique, Maghreb ...
2. MANIFESTATIONS
A différentes échelles
Échelle moléculaire
- substitution ( A=>T)
- changement AA :
FIBRES HbS
ÉCHELLE CELLULAIRE
- fibres d'HbS => déformation
- faucille => rigides, fragiles
OBSERVATIONS MICROSCOPIQUES
GLOGULES ROUGESDRÉPANOCYTAIRES ( FALCIFORME)
GLOBULES ROUGES SAIN
ÉCHELLE MACROSCOPIQUE
ANÉMIE CHRONIQUE
VULNÉRABILITÉ INFECTIONS
CRISES DRÉPANOCYTAIRE
nombre de globules rouges (sang): anormalement bas
IB : pneumocoques, méningites, infections urinaires, ostéomyélites...
Crises vaso-occlusives (CVO):ischémie locale, AIT, AVC...
3. TRAITEMENTS
prise en charge au quotidien
Vaccination renforcée
Surveillance régulière
Antibiotiques (continu)
Transfusions sanguines
Supplémentation vitamines
Hygiène de vie
greffe moelle osseuse
greffe de cellules souches hématopoïétiques
- détruire moelle osseuse malade
- remplacer par donneur compatible
- Cls => hémoglobine normale
- Traitement efficace ms lourd :
- chimio
- donneur compatible
- risque rejet
Thérapie Génétique
Une évolution en cours
- prélèvement Cls souches
- modification p/ vecteur viral
- insertion gène modifié => nouv. Cls
- multiplication Cls modifiées
- injection ds sang patient
=> prod normale d'Hb (50%)
MODE DE VIE
Conseils, restrictions,contraintes...
+2000m
Longtemps déshydration)
Trop serrés
Surveiller la fièvre
Effort prolongé/violent
Limiter écarts températures ( vasoconstriction )
CONCLUSION
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam.
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
6. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
Write a title here
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
+ Info
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
VS
Title II
Title I
Lorem ipsum dolor sit amet, consectetur adipiscing elit.
Lorem ipsum dolor sit amet, consectetur adipiscing elit.
Write a title here
Lorem ipsum dolor sit amet, consectetur
- Lorem ipsum dolor sit amet.
- Adipiscing tempor incididunt.
- Ut dolore magna aliqua.
- Ut enim, quis nostrud.
- Exercitation ullamco laboris.
- Duis aute irure dolor in.
- Reprehenderit in voluptate.
- Cillum dolore eu fugiat nulla.
- Lorem ipsum dolor sit amet.
- Adipiscing tempor incididunt.
- Ut dolore magna aliqua.
- Ut enim, quis nostrud.
- Exercitation ullamco laboris.
- Duis aute irure dolor in.
- Reprehenderit in voluptate.
- Cillum dolore eu fugiat nulla.
VS
9. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et.
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
Title I
Title 2
Title 3
Title 4
Title 5
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Title I
Title I
Write a title here
Title 2
Title 2
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmo.
Title 3
Title 3
Title 4
Title 4
+ Info
Title 5
Title 5
10. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit
65%
Lorem Ipsum
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed.
90%
Lorem Ipsum
+ Info
11. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et.
+900
Lorem Ipsum
+65
Lorem Ipsum
Write a title here
Lorem ipsum dolor sit amet, consectetur
+7m
Lorem Ipsum
+1m
Lorem Ipsum
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
60%
Write a title here
WRITE A TITLE HERE
Lorem ipsum dolor sit amet, consectetur
GO
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt.
80%
WRITE A TITLE HERE
GO
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit.
12. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt.
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem Ipsum
Lorem Ipsum
Lorem ipsum dolor sit
Lorem ipsum dolor sit
Lorem Ipsum
Lorem Ipsum
Lorem ipsum dolor sit
Lorem ipsum dolor sit
THANKS!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
- Visit the Analytics settings;
- Activate user tracking;
- Let the communication flow!
DRÉPANOCYTOSE
Maria St
Created on May 21, 2026
Start designing with a free template
Discover more than 1500 professional designs like these:
View
Urban Illustrated Presentation
View
Historical Presentation
View
KPOP Presentation
View
Snow Presentation
View
Corporate Christmas Presentation
View
Scary Eighties Presentation
View
Memories Presentation
Explore all templates
Transcript
DRÉPANOCYTOSE
Une Maladie génétique du sang
START
SOMMAIRE
1. Présentation
2. Origine
3. Transmission
4. Perennité
5. Manifestations
6. Prise en charge
7. Traitement
9. Conclusion
8. Mode de vie
1. PRÉSENTATION
C'est quoi la drépanocytose ?
1 ere maladie génétique au monde
ORIGINE GÉNÉTIQUE
TRANSMISSION
transmission autosomique récessif
Malade
Porteur sain
Indemne
• 25 % de chances S/S (homozygote muté)
• 25 % de chances A/A (homozygote sain)
• 50 % de chances S/A (hétérozygote)
PS: deux parents S/A
PÉRENNITÉ
Pourquoi cette mutation a-t-elle perduré ?
2. MANIFESTATIONS
A différentes échelles
Échelle moléculaire
FIBRES HbS
ÉCHELLE CELLULAIRE
OBSERVATIONS MICROSCOPIQUES
GLOGULES ROUGESDRÉPANOCYTAIRES ( FALCIFORME)
GLOBULES ROUGES SAIN
ÉCHELLE MACROSCOPIQUE
ANÉMIE CHRONIQUE
VULNÉRABILITÉ INFECTIONS
CRISES DRÉPANOCYTAIRE
nombre de globules rouges (sang): anormalement bas
IB : pneumocoques, méningites, infections urinaires, ostéomyélites...
Crises vaso-occlusives (CVO):ischémie locale, AIT, AVC...
3. TRAITEMENTS
prise en charge au quotidien
Vaccination renforcée
Surveillance régulière
Antibiotiques (continu)
Transfusions sanguines
Supplémentation vitamines
Hygiène de vie
greffe moelle osseuse
greffe de cellules souches hématopoïétiques
Thérapie Génétique
Une évolution en cours
- prélèvement Cls souches
- modification p/ vecteur viral
- insertion gène modifié => nouv. Cls
- multiplication Cls modifiées
- injection ds sang patient
=> prod normale d'Hb (50%)MODE DE VIE
Conseils, restrictions,contraintes...
+2000m
Longtemps déshydration)
Trop serrés
Surveiller la fièvre
Effort prolongé/violent
Limiter écarts températures ( vasoconstriction )
CONCLUSION
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam.
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
6. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
Write a title here
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
+ Info
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
VS
Title II
Title I
Lorem ipsum dolor sit amet, consectetur adipiscing elit.
Lorem ipsum dolor sit amet, consectetur adipiscing elit.
Write a title here
Lorem ipsum dolor sit amet, consectetur
VS
9. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et.
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
Title I
Title 2
Title 3
Title 4
Title 5
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Lorem ipsum dolor sit amet, consectetur.
Title I
Title I
Write a title here
Title 2
Title 2
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmo.
Title 3
Title 3
Title 4
Title 4
+ Info
Title 5
Title 5
10. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit
65%
Lorem Ipsum
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed.
90%
Lorem Ipsum
+ Info
11. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et.
+900
Lorem Ipsum
+65
Lorem Ipsum
Write a title here
Lorem ipsum dolor sit amet, consectetur
+7m
Lorem Ipsum
+1m
Lorem Ipsum
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna.
60%
Write a title here
WRITE A TITLE HERE
Lorem ipsum dolor sit amet, consectetur
GO
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt.
80%
WRITE A TITLE HERE
GO
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit.
12. Write a title here
Lorem ipsum dolor sit amet, consectetur adipiscing elit
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt.
+ Info
Write a title here
Lorem ipsum dolor sit amet, consectetur
Lorem Ipsum
Lorem Ipsum
Lorem ipsum dolor sit
Lorem ipsum dolor sit
Lorem Ipsum
Lorem Ipsum
Lorem ipsum dolor sit
Lorem ipsum dolor sit
THANKS!
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation:
Got an idea?
Use this space to add awesome interactivity. Include text, images, videos, tables, PDFs... even interactive questions! Premium tip: Get information on how your audience interacts with your creation: