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THALASSEMIA Clinical  Features and  Genetic  Classification Presented  by: : Avik  basu  MODERATOR : DR.  SANTOSH  KUMAR  MONDAL ASSOCIATE  PROFESSOR, PATHOLOGY
Eyes Face Skin Spleen Liver Bones
Patient  presents  with … ,[object Object],[object Object],[object Object],[object Object]
Clinician  finds … ,[object Object],[object Object],[object Object],[object Object]
Complications  that  may  follow … ,[object Object],[object Object]
TYPES  OF  THALASSEMIA ,[object Object],[object Object]
Genetic  changes  in  Alpha  Thalassemia… ,[object Object],[object Object]
Structure  of  alpha  gene
Types  of  Deletion  Mutation  in  Alpha  Thalassemia ,[object Object],[object Object]
Types  of  NON-Deletion  Mutation  in  Alpha  Thalassemia ,[object Object],[object Object],[object Object]
 
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  β 4   tetramer) --/- α Hydrops  Fetalis (formation  of  Hb  Barts i.e.  ϒ 4 ) --/--
Genetic  changes  in  Beta Thalassemia… ,[object Object],[object Object]
Structure  of  Beta  gene
Types  of  NON-Deletion  Mutation  in  BETA  Thalassemia ,[object Object],[object Object],[object Object]
TYPES  OF  BETA  THALASSEMIA β  -Thalassemias Genetic  Representation β -Thalassemia  Major β + / β + ,  β + / β 0 ,  β 0 / β 0 β -Thalassemia  Intermedia Milder  variants  of  β + / β +  and  β + / β 0 β -Thalassemia  Minor β + / β ,  β 0 / β
Beta  thalassemic  hemoglobinopathies ,[object Object],[object Object],[object Object]
OTHER  FORMS  OF  THALASSEMIA ,[object Object],[object Object]
 

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Thalassemia Avik

  • 1. THALASSEMIA Clinical Features and Genetic Classification Presented by: : Avik basu MODERATOR : DR. SANTOSH KUMAR MONDAL ASSOCIATE PROFESSOR, PATHOLOGY
  • 2. Eyes Face Skin Spleen Liver Bones
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  • 8. Structure of alpha gene
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  • 12. 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 β 4 tetramer) --/- α Hydrops Fetalis (formation of Hb Barts i.e. ϒ 4 ) --/--
  • 13.
  • 14. Structure of Beta gene
  • 15.
  • 16. TYPES OF BETA THALASSEMIA β -Thalassemias Genetic Representation β -Thalassemia Major β + / β + , β + / β 0 , β 0 / β 0 β -Thalassemia Intermedia Milder variants of β + / β + and β + / β 0 β -Thalassemia Minor β + / β , β 0 / β
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