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Thalassemia
Thalassemia: Impaired globin gene
          production
             Hgb A tetramer


    globin                    globin




    globin                    globin
Globin chain synthesis
cluster - chromosome 16



                          Gower 1


                          Portland   Embryonic


                          Gower II


                          F          Fetal
                          <1%

    G    A
                          A2
cluster - chromosome 11
Thalassemia
• Organization of globin genes
  cluster - chromosome 16   cluster - chromosome 11

                            G   A
       2     1
                            G   A
       2     1
• Decreased production of normal globin
  chains
  –   thalassemia—deficiency of             gene(s)
  –   thalassemia—deficiency of             gene(s)
Alpha Thalassemia: Clinical
            Features
• Absence of 1–2 alpha             X         X
  chains                                XX   X
  – Common
  – Asymptomatic
  – Does not require therapy       X
• Absence of 3 alpha chains        XX
  (Hgb H disease)
  – Microcytic anemia (Hgb 7–10)
  – Splenomegaly                   XX
• Absence of 4 alpha chains        XX
  – Hydrops fetalis (non-viable)
Alpha Thalassemia: Laboratory
                     Findings
                  Hgb     MCV
        Chains   (g/dl)    (fl)          Hgb Analysis

   /             Normal   Normal   Normal

   /-            12–14    75–85    Normal

                                   Normal with Hgb Barts (
 -/ - or --/     11–13    70–75
                                   4); Hgb H ( 4) (small)
                                   Normal with Hgb Barts (
 -/--            7–10     50–60
                                   4); Hgb H ( 4) (large)

--/--              -        -      Not viable
Hypochromic Microcytic RBCs:
              Alpha Thalassemia

Alpha thalassemia trait                           Alpha thalassemia ( -/--)




    Photomicrographs from American Society of Hematology Slide Bank
Beta Thalassemia
Clinical        Genotype           Hgb (g/dl) Hgb A2   Hgb F
syndrome


Minor (Trait)    +
                     or        °    10–13        +        +


Intermedia           +
                      /   +
                                     7–10        +        ++

Major            +
                          or
(Cooley’s                             <7         +       +++
                          °
anemia)
Beta Thalassemia Major


Skeletal
   – Osteoporosis due to bone marrow expansion
   – Pneumatization of the sinuses is delayed by
     expanded hematopoiesis
• Dilated cardiomyopathy secondary to severe
  anemia
• Growth and development delayed
• Hepatomegaly due to extramedullary hematopoiesis
Microcytic Hypochromic Anemia:
Beta Thalassemia Major
Approach to Beta Thalassemia
•       thalassemia trait
    – Screening/counseling

•       thalassemia intermedia/major
    –   Screening/counseling
    –   RBC transfusion therapy (+ iron chelation therapy)
    –   Agents to increase hemoglobin F (hydroxyurea)
    –   Bone marrow transplantation

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medicaldump.com

  • 2. Thalassemia: Impaired globin gene production Hgb A tetramer globin globin globin globin
  • 3. Globin chain synthesis cluster - chromosome 16 Gower 1 Portland Embryonic Gower II F Fetal <1% G A A2 cluster - chromosome 11
  • 4. Thalassemia • Organization of globin genes cluster - chromosome 16 cluster - chromosome 11 G A 2 1 G A 2 1 • Decreased production of normal globin chains – thalassemia—deficiency of gene(s) – thalassemia—deficiency of gene(s)
  • 5. Alpha Thalassemia: Clinical Features • Absence of 1–2 alpha X X chains XX X – Common – Asymptomatic – Does not require therapy X • Absence of 3 alpha chains XX (Hgb H disease) – Microcytic anemia (Hgb 7–10) – Splenomegaly XX • Absence of 4 alpha chains XX – Hydrops fetalis (non-viable)
  • 6. Alpha Thalassemia: Laboratory Findings Hgb MCV Chains (g/dl) (fl) Hgb Analysis / Normal Normal Normal /- 12–14 75–85 Normal Normal with Hgb Barts ( -/ - or --/ 11–13 70–75 4); Hgb H ( 4) (small) Normal with Hgb Barts ( -/-- 7–10 50–60 4); Hgb H ( 4) (large) --/-- - - Not viable
  • 7. Hypochromic Microcytic RBCs: Alpha Thalassemia Alpha thalassemia trait Alpha thalassemia ( -/--) Photomicrographs from American Society of Hematology Slide Bank
  • 8. Beta Thalassemia Clinical Genotype Hgb (g/dl) Hgb A2 Hgb F syndrome Minor (Trait) + or ° 10–13 + + Intermedia + / + 7–10 + ++ Major + or (Cooley’s <7 + +++ ° anemia)
  • 9. Beta Thalassemia Major Skeletal – Osteoporosis due to bone marrow expansion – Pneumatization of the sinuses is delayed by expanded hematopoiesis • Dilated cardiomyopathy secondary to severe anemia • Growth and development delayed • Hepatomegaly due to extramedullary hematopoiesis
  • 11. Approach to Beta Thalassemia • thalassemia trait – Screening/counseling • thalassemia intermedia/major – Screening/counseling – RBC transfusion therapy (+ iron chelation therapy) – Agents to increase hemoglobin F (hydroxyurea) – Bone marrow transplantation