Abstract
BACKGROUND: Thalassemia is the most common hereditary anemia worldwide. Beta-thalassemia results from mutations in HBB gene, causing either absent (β(0)) or decreased (β(+)) production of β-globin. Mutations causing β(+)-thalassemia comprise 10-20%of HBB mutations in Thailand. However, their clinical characteristics are poorly characterized. OBJECTIVES: To describe the clinical and hematological characteristics of patients with β(+)-thalassemia and uncommon β-chain hemoglobin (Hb) variants. METHODS: Clinical and hematological data of patients with β(+)-thalassemia and uncommon β-chain Hb variants at Chiang Mai University Hospital were retrospectively reviewed. RESULTS: Forty-three patients were included in the study. Three HBB β(+)-thalassemia mutations: nt-28(A > G), nt-31(A > G), and nt-87(C > A), and four Hb variants: Hb Tak, Hb Dhonburi, Hb Malay, and Hb Hope. Seventeen patients had β(+)/β(0)-thalassemia, 11 had Hb E/β(+)-thalassemia, and 15 had Hb variants. All patients with β(+)/β(0)-thalassemia were transfusion dependent. All patients with β(+)-thalassemia/Hb E had mild disease and were non-transfusion-dependent. Patients with Hb Tak/β(0)-thalassemia presented with polycythemia. Hb Hope/β(0)-thalassemia, Hb Hope/Hb E, and Hb Dhonburi/Hb E resulted in mild phenotypes. Patients with Hb Malay/β(0)-thalassemia required occasional or regular transfusions. CONCLUSIONS: All HBB mutations causing β(+)-thalassemia in this study were promoter mutations. β(+)/β(0)-thalassemia results in transfusion-dependent thalassemia, whereas β(+)-thalassemia/Hb E disease is associated with mild disease. Beta-chain Hb variants when coinherited with β-thalassemia mostly result in mild or moderate phenotypes, and the clinical characteristics depend on the type of Hb variant.