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beta thalassemia

This form of thalassemia is due to point mutations, further subdivided according to pathogenesis: beta thalassemia major: in this form of beta thalassemia, patients are homozygous for the defective genes: beta0, homozygous beta+, both are life-threatening. beta thalassemia minor: patients are heterozygous for the defective gene; they have a mild anemia.


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