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THALASSEMIAS - Coggle Diagram

- - - - Hgb Bart is totally nonfunctional so condition is lethal (infants have CHF early in gestation & are commonly stillborn)
        -Fetus survives until 3rd trimester due to Hgb Portland but then dies of anoxia
        
        Electrophoresis shows 80% Hgb Bart, 20% Hgb Portland (little or no Hgb H & no Hgb A)
        Peripheral blood smear loaded w/ nRBCs
        Most found in SE Asia (esp. Filipinos)
  - - - Systematic but not fatal
        Increased O2 affinity
        Targets & micro-, hypo-
        
        Hgb H tends to precipitate as green-blue inclusions in older RBCs triggering chronic hemolytic anemia
        
        Fast-moving hemoglobin that appears on electrophoresis but since they are unstable they often go undetected
  - - - Alkaline hgb electrophoresis shows Hgb H, A1, A2, & 1-3% Hgb Constant Spring
        
        Targets & micro-, hypo- peripheral blood picture (lack of) treatment & prognosis all pretty much same as in Hgb H disease
  - - - Decreased MCV & MCH, frequent poik w/ target cells
        
        No real clinical disease
  - - - About 30% prevalence in African-Americans
- - - - Problem is usually point mutations
  - - - Increased RBCs w/ decreased MCV & MCH
        -Marked basophilic stippling, targets, teardrops, nRBCs
        
        Increased Hgb F on electrophoresis, slt increase Hgb A2, absent Hgb A
        
        Treat w/regular transfusions (to prevent bone deformity changes)
        Fe chelation therapy using --> desferroxamine
        Bone marrow transplant may be used
  - - - Alkaline electrophoresis shows increased Hgb F, decreased Hgb A
        
        Treat w/supportive care as need. Few transfusions needed
  - - - Commonly confused w/ IDA
        However, RBC count is > than you would expect for degree of micro-, hypo-
- - - - Abnormal RBC morphology (still micro-, hypo-) & variable anemia (mild to mod)
        
        Alk elp = increased Hgb F, decreased Hgb A1, variable Hgb A2
        
        REMEMBER:
        delta-beta thal is exactly what its name implies: decreased or absent delta and beta chains
  - - - Stable, has normal function except for slightly increase O2 affinity --> shift to left
        
        Hgb Lepore = delta-beta fusion!
  - - - Hgb S-B0 Thal (BS/_) like Hgb SS
        Hgb S-B+ Thal (BS/ B Thal) like Hgb AS
        
        S-B0 = like SS
        S- B+ = lie AS
        
        Distinguishable by electrophoresis, microcytosis, and splenomegaly
  - - - Less symptomatic than gamma-beta Thal
        
        "HPFH = deletion/inactivation of gamma-beta gene complex aka gamma-beta Thal Lite"
        
        No clinical abnormalities
        Two subpopulations of HPFH exist:
        Homozygotes --> 100% Hgb w/ slt. micro-, hypo- cells
        Heterozygotes --> much less (15-35%) Hgb F on alkaline electrophoresis & near normal lab results
- - - - Micro-, hypo- RBCs
        Beta- Thals have the greater hemolytic anemia, due to precipitation of highly unstable alpha tetramers.
        Greater hemolytic anemia = greater reticulocytosis = increased RBC count w/ worse MCV & MCH