抄録
The thalassemia syndrome is a group of entities which are clinically characterized by hypochromic, microcytic anemia and genetically determined by depression of hemoglobin synthesis. The thalassemia has a decreased rate of synthesis of one or more globin chains of hemoglobin, and is classified according to the globin chain involved. Thus, there are the α, β, δ, γ and δβ thalassemia.
The cilnical and laboratory features of main forms of thalassemia are now well defined and are summarized in Table 1. In common types of thalassemia, especially in β and δβ thalassemia, individuals who carry one thalassemia gene and one normal gene (heterozygotes) are relatively mildly affected (thalassemia traet or thalassemia minor). Individuals who inherited two similar or identical thalassemia gene (homozygotes) suffer from a severe impairment of hemoglobin synthesis (thalassemia major).
In thalassemia, primary genetic defect might be led to decrease or alteration of messenger RNA that directs the synthesis of globin chains. In this review, recent progresses in molecular pathology of thalassemia, such as a decreased or defective messenger RNA, are discussed.
