期刊
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
卷 32, 期 2, 页码 193-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.hoc.2017.11.006
关键词
Transfusion-dependent thalassemia (TDT); Non-transfusion-dependent thalassemia (NTDT); Diagnosis; Screening
At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia. This classification is based on the clinical severity of the disease, determining whether patients require regular blood transfusions to survive (transfusion-dependent thalassemia) or not (non-transfusion-dependent thalassemia). In addition to the previous terminology of thalassemia major or thalassemia intermedia, this classification has embraced all other forms of thalassemia syndromes, such as alpha-thalassemia, hemoglobin E/beta-thalassemia, and combined alpha- and beta-thalassemias. Definitive diagnosis of thalassemia and hemoglobinopathies requires a comprehensive workup, including complete blood count, hemoglobin analysis, and molecular studies to identify mutations of globin genes.
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