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Thalassemia and Hemoglobinopathies, Gene expression, δβ-thalassemia, Hb E,…

- - - - mildly unstable
        
        anemia <--- hemolysis
      - profound tissue hypoxia
        
        heart & liver failure (decreased alb)
        
        massive edema (hydrops)
        
        hypoxic death
  - - - decreased Hb A
        
        hypochromic hemolytic anemia w/ splenomegaly
      - excess β globin
        
        moderately unstable
- - - - denaturation, degradation
        
        hemolysis
        
        splenomegaly
        
        anemia
        
        transfusion
        
        iron loading
        
        3 more items...
        
        tissue hypoxia
        
        RBC precursors destroyed
        
        ineffective erythropoiesis
    - - increased HbF in RBCs
        
        high O2 affinity
        
        reduced O2 delivery
        
        erythropoietin
        
        marrow expansion
        
        increased Fe absorption
        
        1 more item...
        
        skeletal deformity
        
        increased metabolic rate
        
        wasting
        
        gout
        
        folate deficiency
- - - - TAA --> TAT
      - codon 142
    - - codon 142
      - TAA --> CAA
    - - codon 74
      - GAC --> CAC
  - - - codon 26
      - glutamate >> lysine
      - Hb E - β - thalassemia
    - - codon 6
      - glutamate >> valine
      - SCA (SCD) and Hb S - β - thalassemia
    - - codon 6
      - glutamate >> lysine
      - Hb C - β - thalassemia
- - - - Hb H disease (--/-α)
      - Hetero Hb E (βE/βA)
    - - Hb H disease (--/-α)
      - Homo Hb E (βE/βE)
    - - Hb H disease (--/-α)
      - β0-thalassemia / HbE
- - - - codon 26 (GAG --> AAG) of HBB gene
      - β+ thalassemia
    - - α-thalassemia
      - codon 142 (TAA --> CAA) of HBA2 gene
- - - - Normal (αα/αα, β/β) = 97%