Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.

BACKGROUND

Thalassemia is the most common hereditary anemia worldwide. Beta-thalassemia results from mutations in gene, causing either absent (β) or decreased (β) production of β-globin. Mutations causing β-thalassemia comprise 10-20%of 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 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-thalassemia, 11 had Hb E/β-thalassemia, and 15 had Hb variants. All patients with β/β-thalassemia were transfusion dependent. All patients with β-thalassemia/Hb E had mild disease and were non-transfusion-dependent. Patients with Hb Tak/β-thalassemia presented with polycythemia. Hb Hope/β-thalassemia, Hb Hope/Hb E, and Hb Dhonburi/Hb E resulted in mild phenotypes. Patients with Hb Malay/β-thalassemia required occasional or regular transfusions.

CONCLUSIONS

All mutations causing β-thalassemia in this study were promoter mutations. β/β-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.