THALASSEMIA Clinical  Features and  Genetic  Classification Presented  by: : Avik  basu  MODERATOR : DR.  SANTOSH  KUMAR  ...
Eyes Face Skin Spleen Liver Bones
Patient  presents  with … <ul><li>Fatigue </li></ul><ul><li>Loss  of  Appetite </li></ul><ul><li>Jaundice </li></ul><ul><l...
Clinician  finds … <ul><li>Chipmunk  Facies </li></ul><ul><li>Facial  Pallor </li></ul><ul><li>Icterus </li></ul><ul><li>H...
Complications  that  may  follow … <ul><li>Bacterial  Infections </li></ul><ul><li>Iron  Overload </li></ul>
TYPES  OF  THALASSEMIA <ul><li>Alpha  Thalassemia </li></ul><ul><li>Beta  Thalassemia </li></ul>
Genetic  changes  in  Alpha  Thalassemia… <ul><li>Deletion  Mutations </li></ul><ul><li>Non-deletion  Mutations </li></ul>
Structure  of  alpha  gene
Types  of  Deletion  Mutation  in  Alpha  Thalassemia <ul><li>α -4.2  kb  Leftward  Deletion </li></ul><ul><li>α-3.7  kb  ...
Types  of  NON-Deletion  Mutation  in  Alpha  Thalassemia <ul><li>Chain  Termination  Mutation </li></ul><ul><li>RNA  Spli...
 
TYPES  OF  ALPHA  THALASSEMIA α  -Thalassemias Genetic  Representation Silent  Carrier - α / αα α -Thalassemia  Trait-1 --...
Genetic  changes  in  Beta Thalassemia… <ul><li>Deletion  Mutations </li></ul><ul><li>Non-deletion  Mutations </li></ul>
Structure  of  Beta  gene
Types  of  NON-Deletion  Mutation  in  BETA  Thalassemia <ul><li>Transcription  Mutations </li></ul><ul><li>Mutations  in ...
TYPES  OF  BETA  THALASSEMIA β  -Thalassemias Genetic  Representation β -Thalassemia  Major β + / β + ,  β + / β 0 ,  β 0 ...
Beta  thalassemic  hemoglobinopathies <ul><li>∂ β   hybrid  genes </li></ul><ul><li>Activation  of  cryptic  splice  sites...
OTHER  FORMS  OF  THALASSEMIA <ul><li>∂  Thalassemia </li></ul><ul><li>∂ β   Thalassemia </li></ul>
 
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Thalassemia Avik

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22september 2011, GLT medical College Kolkata88, India..............under Pathology Dept!!!!!!!!1Dr.S.K.Mandal.........chief speakers

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Thalassemia Avik

  1. 1. THALASSEMIA Clinical Features and Genetic Classification Presented by: : Avik basu MODERATOR : DR. SANTOSH KUMAR MONDAL ASSOCIATE PROFESSOR, PATHOLOGY
  2. 2. Eyes Face Skin Spleen Liver Bones
  3. 3. Patient presents with … <ul><li>Fatigue </li></ul><ul><li>Loss of Appetite </li></ul><ul><li>Jaundice </li></ul><ul><li>Abdominal Pain and Enlargement </li></ul>
  4. 4. Clinician finds … <ul><li>Chipmunk Facies </li></ul><ul><li>Facial Pallor </li></ul><ul><li>Icterus </li></ul><ul><li>Hepatosplenomegaly </li></ul>
  5. 5. Complications that may follow … <ul><li>Bacterial Infections </li></ul><ul><li>Iron Overload </li></ul>
  6. 6. TYPES OF THALASSEMIA <ul><li>Alpha Thalassemia </li></ul><ul><li>Beta Thalassemia </li></ul>
  7. 7. Genetic changes in Alpha Thalassemia… <ul><li>Deletion Mutations </li></ul><ul><li>Non-deletion Mutations </li></ul>
  8. 8. Structure of alpha gene
  9. 9. Types of Deletion Mutation in Alpha Thalassemia <ul><li>α -4.2 kb Leftward Deletion </li></ul><ul><li>α-3.7 kb Rightward Deletion </li></ul>
  10. 10. Types of NON-Deletion Mutation in Alpha Thalassemia <ul><li>Chain Termination Mutation </li></ul><ul><li>RNA Splicing Mutation </li></ul><ul><li>Mutations in Poly[A] Addition Signal </li></ul>
  11. 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 ) --/--
  12. 13. Genetic changes in Beta Thalassemia… <ul><li>Deletion Mutations </li></ul><ul><li>Non-deletion Mutations </li></ul>
  13. 14. Structure of Beta gene
  14. 15. Types of NON-Deletion Mutation in BETA Thalassemia <ul><li>Transcription Mutations </li></ul><ul><li>Mutations in RNA Processing </li></ul><ul><li>Mutations in RNA Translation </li></ul>
  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
  16. 17. Beta thalassemic hemoglobinopathies <ul><li>∂ β hybrid genes </li></ul><ul><li>Activation of cryptic splice sites </li></ul><ul><li>Hyperunstable β globins </li></ul>
  17. 18. OTHER FORMS OF THALASSEMIA <ul><li>∂ Thalassemia </li></ul><ul><li>∂ β Thalassemia </li></ul>
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