Annals of medicine · 2025
Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.
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Rukwong Punwadee, Natesirinilkul Rungrote, Sathitsamitphong Lalita, Choed-Amphai Chane, Tantiworawit Adisak, Fanhchaksai Kanda, Maneekesorn Supawadee, Charoenkwan Pimlak
Аннотация
BACKGROUND: Thalassemia is the most common hereditary anemia worldwide. Beta-thalassemia results from mutations in HBB gene, causing either absent (β0) 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+/β0-thalassemia, 11 had Hb E/β+-thalassemia, and 15 had Hb variants. All patients with β+/β0-thalassemia were transfusion dependent. All patients with β+-thalassemia/Hb E had mild disease and were non-transfusion-dependent. Patients with Hb Tak/β0-thalassemia presented with polycythemia. Hb Hope/β0-thalassemia, Hb Hope/Hb E, and Hb Dhonburi/Hb E resulted in mild phenotypes. Patients with Hb Malay/β0-thalassemia required occasional or regular transfusions.
CONCLUSIONS: All HBB mutations causing β+-thalassemia in this study were promoter mutations. β+/β0-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.
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+/β0-thalassemia, 11 had Hb E/β+-thalassemia, and 15 had Hb variants. All patients with β+/β0-thalassemia were transfusion dependent. All patients with β+-thalassemia/Hb E had mild disease and were non-transfusion-dependent. Patients with Hb Tak/β0-thalassemia presented with polycythemia. Hb Hope/β0-thalassemia, Hb Hope/Hb E, and Hb Dhonburi/Hb E resulted in mild phenotypes. Patients with Hb Malay/β0-thalassemia required occasional or regular transfusions.
CONCLUSIONS: All HBB mutations causing β+-thalassemia in this study were promoter mutations. β+/β0-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.