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22september 2011, GLT medical College Kolkata88, India..............under Pathology Dept!!!!!!!!1Dr.S.K.Mandal.........chief speakers aVIK bASU, Chirantan Mnadal, Urmimala Bhattacharya, Soumaditya Banerjee!!!!!!!!!
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THALASSEMIAClinical Features
and Genetic Classification
Presented by::
Avik basu MODERATOR:
DR. SANTOSH KUMAR MONDALASSOCIATE PROFESSOR, PATHOLOGY
EyesFace
Skin
SpleenLiver
Bones
Patient presents with… Fatigue
Loss of Appetite
Jaundice
Abdominal Pain and Enlargement
Clinician finds…
Chipmunk Facies
Facial Pallor
Icterus
Hepatosplenomegaly
Complications that may follow…
Bacterial Infections
Iron Overload
TYPES OF THALASSEMIA
Alpha Thalassemia
Beta Thalassemia
Genetic changes in Alpha Thalassemia…
Deletion Mutations
Non-deletion Mutations
Structure of alpha gene
Types of Deletion Mutation in Alpha
Thalassemiaα-4.2 kb Leftward Deletion
α-3.7 kb Rightward Deletion
Types of NON-Deletion Mutation in Alpha
Thalassemia Chain Termination Mutation
RNA Splicing Mutation
Mutations in Poly[A] Addition Signal
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)
--/--
Genetic changes in Beta Thalassemia…
Deletion Mutations
Non-deletion Mutations
Structure of Beta gene
Types of NON-Deletion Mutation in BETA
Thalassemia Transcription Mutations
Mutations in RNA Processing
Mutations in RNA Translation
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
Beta thalassemic hemoglobinopathies
∂β hybrid genes
Activation of cryptic splice sites
Hyperunstable β globins
OTHER FORMS OF THALASSEMIA
∂ Thalassemia
∂β Thalassemia