Thalassemia Avik
-
Upload
wbuhs -
Category
Health & Medicine
-
view
788 -
download
1
description
Transcript of Thalassemia Avik
![Page 1: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/1.jpg)
THALASSEMIAClinical Features
and Genetic Classification
Presented by::
Avik basu MODERATOR:
DR. SANTOSH KUMAR MONDALASSOCIATE PROFESSOR, PATHOLOGY
![Page 2: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/2.jpg)
EyesFace
Skin
SpleenLiver
Bones
![Page 3: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/3.jpg)
Patient presents with… Fatigue
Loss of Appetite
Jaundice
Abdominal Pain and Enlargement
![Page 4: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/4.jpg)
Clinician finds…
Chipmunk Facies
Facial Pallor
Icterus
Hepatosplenomegaly
![Page 5: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/5.jpg)
Complications that may follow…
Bacterial Infections
Iron Overload
![Page 6: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/6.jpg)
TYPES OF THALASSEMIA
Alpha Thalassemia
Beta Thalassemia
![Page 7: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/7.jpg)
Genetic changes in Alpha Thalassemia…
Deletion Mutations
Non-deletion Mutations
![Page 8: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/8.jpg)
Structure of alpha gene
![Page 9: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/9.jpg)
Types of Deletion Mutation in Alpha
Thalassemiaα-4.2 kb Leftward Deletion
α-3.7 kb Rightward Deletion
![Page 10: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/10.jpg)
Types of NON-Deletion Mutation in Alpha
Thalassemia Chain Termination Mutation
RNA Splicing Mutation
Mutations in Poly[A] Addition Signal
![Page 11: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/11.jpg)
![Page 12: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/12.jpg)
TYPES OF ALPHA THALASSEMIA
α -Thalassemias Genetic Representation
Silent Carrier -α/αα
α-Thalassemia Trait-1
--/αα
α-Thalassemia Trait-2 -α/-α
Hemoglobin H Disease(formation of β4 tetramer)
--/-α
Hydrops Fetalis(formation of Hb Barts i.e. ϒ4)
--/--
![Page 13: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/13.jpg)
Genetic changes in Beta Thalassemia…
Deletion Mutations
Non-deletion Mutations
![Page 14: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/14.jpg)
Structure of Beta gene
![Page 15: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/15.jpg)
Types of NON-Deletion Mutation in BETA
Thalassemia Transcription Mutations
Mutations in RNA Processing
Mutations in RNA Translation
![Page 16: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/16.jpg)
TYPES OF BETA THALASSEMIA
β -Thalassemias Genetic Representation
β-Thalassemia Major β+/β+, β+/β0, β0/β0
β-Thalassemia Intermedia Milder variants of β+/β+ and β+/β0
β-Thalassemia Minor β+/β, β0/β
![Page 17: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/17.jpg)
Beta thalassemic hemoglobinopathies
∂β hybrid genes
Activation of cryptic splice sites
Hyperunstable β globins
![Page 18: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/18.jpg)
OTHER FORMS OF THALASSEMIA
∂ Thalassemia
∂β Thalassemia
![Page 19: Thalassemia Avik](https://reader036.fdocuments.in/reader036/viewer/2022081414/54b3f8684a79595c238b45ae/html5/thumbnails/19.jpg)