A 6-Year Follow-up of a Chinese Child with Homozygous ⁰-Thalaasemia and a Heterozygous KLF1 Mutation

Patients with the genotype of beta(0)/beta(0) for beta-thalassemia (beta-thal) usually behave as beta-thal major (beta-TM) phenotype which is transfusion-dependent. The pathophysiology of beta-thal is the imbalance between alpha/beta-globin chains. The degree of alpha/beta-globin imbalance can be reduced by the more effective synthesis of gamma-globin chains, and increased Hb F levels, modifying clinical severity of beta-TM. We report a Chinese child who had homozygous beta(0)-thal and a heterozygous KLF1 mutation. The patient had a moderate anemia since 6 months old, keeping a baseline Hb value of 8.0-9.0 g/dL. She had normal development except for a short stature (3rd percentile) until 6 years old, when splenomegaly and facial bone deformities occurred. Although genetic alteration of KLF1 expression in beta(0)/beta(0) patients can result in some degree of disease alleviation, our case shows that it is insufficient to ameliorate satisfactorily the presentation. This point should be borne in mind for physicians who provide the genetic counseling and prenatal diagnosis to at-risk families.