A 6-Year Follow-up of a Chinese Child with Homozygous β0-Thalaasemia and a Heterozygous KLF1 Mutation.

Abstract excerpt

Patients with the genotype of β0/β0 for β-thalassemia (β-thal) usually behave as β-thal major (β-TM) phenotype which is transfusion-dependent. The pathophysiology of β-thal is the imbalance between α/β-globin chains. The degree of α/β-globin imbalance can be reduced by the more effective synthesis of γ-globin chains, and increased Hb F levels, modifying clinical severity of β-TM. We report a Chinese child who had...

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