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Hematological Disorders (COAGULATION DISORDERS (Clotting Components …

- - - - Types of Beta Thal
        
        Severity dependent on alpha globin/non-alpha globin chain imbalance
        
        Beta0-Thal = Thalassemia Major
        absence of B-globin chains (LOF)
        excess of A-globin chains compared to Y-globin chains
        A/Y ratio is > 2
        
        Beta(+)-Thal = Thalassemia Intermedia
        variable decreases in B-globin chains
        imbalance of A/B and Y ratio
        
        Difference between major and intermedia is confusing and tends to be dependent on amount of blood transfusions patient needs the more dependent on transfusions, the more likely patient has thalassemia major
        Intermedia patients tend to need transfusions to improve quality of life, but not to survive
        
        Thalassemia minor or trait
        thalassemia carrier
        may have mild anemia but generally no health issues
        
        THALASSEMIA HEMOGLOBIN PATTERNS HbA 96-98% Normal, 0 Beta Thal Major, 10-30% Intermedia, 92-95% Carrier HbF <1% Normal, 95-98% Beta Thal Major, 70-90% Intermedia, 0.5-4% Carrier HbA2 2-3% Normal, 2-5% Beta Thal Major, can be increased or decreased for Intermedia, > 3.5% Carrier
      - PREVALENCE
        Mediterranean (highest in Cyprus, 14% and Sardinia 12%)
        Middle East
        Transcaucasus
        Central Asia
        Indian Subcontinent
        Far East
        But with more immigration, prevalence is world-wide
      - TREATMENT AND COMPLICATIONS
        
        Transfusions with chelation to prevent iron overload
        
        Cure it by bone marrow transplantations
        Untreated:
        
        FTT
        
        Pallor, jaundice, brown pigmentation
        
        Poor musculature, enlarged liver and spleen
        
        Skeletal changes (expansion of the bone marrow)
      - GENETICS
        
        point mutations in beta globin gene
        
        deletions of variable extent of the B-globin gene cluster
        
        200 mutations
        
        within populations 4-10 mutations
    - - GENETICS
        
        mostly deletions; can be cis or trans
        
        cis more common in southeast asians (also seen in mediterranean)
        
        trans more common in Africans
        
        point mutations also exist, but they're rare
        
        EPIDEMIOLOGY
        Geography
        
        parts of Africa, Mediterranean, Middle East
        
        throughout southeast Asia and Pacific
        Carrier Frequency
        Asians: --/aa > 1/20
        Mediterranean: -a/aa 1/20-1/50; Also nondeletion mutations
        American Blacks: -a/aa 1/3; a-/a- 1/30-1/50
      - HbH Disease