Information in this section pertains to all global PEN® partners except where country flags are
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Disease Etiology
Sickle cell disease and thalassemias are hemoglobinopathies or anemias caused by genetic mutations (1).
Thalassemias are inherited microcytic (cells are small in size), hemolytic (cells are ruptured/destroyed) anemias. Adult hemoglobin (Hb) molecules include four globin chains (2). Thalassemia is caused by a reduced production of at least one globin peptide chain (beta, alpha, gamma, delta). The excess unpaired globin chains lead to hemolysis and impaired