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

Abstract

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 homozygous β⁰-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 β⁰/β⁰ 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.

Keywords:

• Genotype/phenotype correlation
• fetal hemoglobin (Hb F)
• Kruppel-like factor 1 (KLF1)
• modifier
• β-thalassemia (β-thal)

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This work was supported by the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088] and Guangdong Natural Science Foundation [2023A1515010402], Guangdong Province, People’s Republic of China.