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Beta Thalassemia najmaldin saki
 

Beta Thalassemia najmaldin saki

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Beta thalassemia

Beta thalassemia

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    Beta Thalassemia najmaldin saki Beta Thalassemia najmaldin saki Presentation Transcript

    • بسمه تعالی
    •  
    • Beta thalassemia
      • Thalassemia: globin chain usually have normal structure but the production are decreased.
      • Beta thalassemia refers to decrease production of beta chain.
      • There is deficit of hemoglobin tetramer in the RBC & usually MCV & MCH are reduced.
    • Molecular defect
      • In beta thalassemia there is considerable heterogenity in molecular defect.
      • 197 different mutation have been identified as the cause of beta thalassemia.
      • Most of associated with single base substitution that produce defects in promotor,RNA processing,slicing or translation resulting in decreased or unstable mRNA.
      • Desite this diversity 20 common mutation accont for %80 of beta thalassemia.
      • In beta * talassemia beta chain synthesis is absent because the related mRNA is absent or is non-functional.
      • In beta+ thalassemia beta chain is resent but reduced in quantity because the related mRNA is decreased or unstable.
      • The terms thalassemia majore , intermedia & minor refer to clinical severity & are not genetic designation.
    • Cooley”anemia
      • Absense or marked decreased in beta chain production (Beta*or Beta+).
      • There is an excess of alpha chain.
      • Aggregation of alpha chain is unstable & precipitate in the normoblast or RBC & damaged the cell.
      • There is ineffective erythropoiesis & a severe hemolytic anemia.
    • Clinical feature
      • Jaundice, splenomegaly, promineat frontal bone.
      • Cortex of the long & flat bone are thin.
      • Extra BM hyerplasia.
      • Most patient require regular transfusion.
      • Major cause of death is cardiac failure due to myocardial sidrosis.
    • blood
      • The anemia is hypochromic & microcytic.
      • Poikilocytosis,target cell ,ovalocytosis ,cabotring,howell-jolly body.
      • The reticulocyte count is less elevated than expected.
      • OF ,sFe ,indirect bilirubin
    • B.M
      • Marked normoblastic hyperplasia.
      • Intramedulary destruction of hemoglobin
      • Iron storage , sidroblast
      • Beta* thalassemia:
      • - Hb A is absent , Hb F is as high as%98 ,Hb A2 is %2 .
      • beta+ thalassemia:
      • - Hb A is present ,Hb F:60-95% ,Hb A2 N or
      • Thalassemia intermedia :in black people with Beta+ Thalassemia ,the clinical feature are less severe & trnsfusion is usually unnecessary.
      • -Hb F:20-40% ,Hb A2:2-5% ,the level of HbA is high
    • Cooley”trait
      • Beta chain synthesis is reduced.
      • There are usually no symptoms or abnormal physical signs.
      • MCV ,MCH ,MCHC N or ,Retic ,OF
      • HbA2:3.5-7% ,HbF:1-3%
    • Iron deficincy & cooley”s trait
      • Increased in RBC count with decreased MCV
      • Thalassemia trait
      • The MCV/RBC ratio<13 thalassemia trait
      • The MCV/RBC ratio>13 iron deficincy