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Hematology: Thalassemia
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α-thalassemia
α-thalassemia
Deletions in 1 or more α-globin alleles, results in decreased ‘amounts’ of α-chain.
Severity increases with increased number of deletions.
Hb-Barts (γ 4) = 4 deletions (embryonic lethal)
Hb-H (β4 ) = 3 deletions results in a severe microcytic
anemia w/ splenomegaly
α-thalassemia trait = 1 or 2 deletions (or mutations)
generally no anemia, but low MCV and
low MCH
Thalassemia major (βo/βo)
Thalassemia major (βo/βo)
requires regular blood transfusions, extensive medical care
Treatment of Thalassemia major
Treatment of Thalassemia major
Blood transfusions (2-3 units/month)
Splenectomy
Endocrine therapy (diabetes, pituitary function)
Stem cell transplant (allogeneic)
Candidates for GENE THERAPY!!
- CRISPR/Cas9 trials in progress
- Lentiviral transduction HSC just approved
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