Abstract
Thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis. Patients with β-thalassemia display variable clinical severity which ranges from asymptomatic features to severe transfusion-dependent anemia and complications in multiple organs. They not only are at increased risk of blood-borne infections resulting from multiple transfusions, but they also show enhanced susceptibility to infections as a consequence of coexistent immune deficiency. Enhanced susceptibility to infections in β-thalassemia patients is associated with the interplay of several complex biological processes. β-thalassemia-related abnormalities of the innate immune system include decreased levels of complement, properdin, and lysozyme, reduced absorption and phagocytic ability of polymorphonuclear neutrophils, disturbed chemotaxis, and altered intracellular metabolism processes. According to available literature data, immunological abnormalities observed in patients with thalassemia can be caused by both the disease itself as well as therapies. The most important factors promoting such alterations involve iron overload, phenotypical and functional abnormalities of immune system cells resulting from chronic inflammation oxidative stress, multiple blood transfusion, iron chelation therapy, and splenectomy. Unravelling the mechanisms underlying immune deficiency in β-thalassemia patients may enable the designing of appropriate therapies for this group of patients.
Highlights
Congenital hemolytic anemias (CHAs) comprise heterogeneous hereditary disorders associated with decreased life span and premature removal of the erythrocytes from the circulation [1]
The imbalance in the relative quantity of α-globin and β-globin chains and the formation of harmful reactive oxygen species (ROS) in erythroid progenitors leads to early apoptosis of maturing nucleated erythroid cells with hematopoietic expansion and subsequent chronic hemolytic anemia with significant reticulocytosis, severe anemia, and an array of secondary pathophysiologic mechanisms [5,6]. β-thalassemia is an autosomal recessive disease [7]
Patients with thalassemia are at increased risk of blood-borne infections resulting from multiple transfusions, but they show enhanced susceptibility to infections as a consequence of coexistent immune deficiency
Summary
Congenital hemolytic anemias (CHAs) comprise heterogeneous hereditary disorders associated with decreased life span and premature removal of the erythrocytes from the circulation [1]. Β-thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis and consequent ineffective functions of red blood cells [2,3,4]. Patients with thalassemia are at increased risk of blood-borne infections resulting from multiple transfusions, but they show enhanced susceptibility to infections as a consequence of coexistent immune deficiency. The presence of β-thalassemia is associated with several abnormalities of the innate immune system observed from early childhood They include: decreased levels of complement, properdin and lysozyme, reduced absorption and phagocytic ability of polymorphonuclear neutrophils, disturbed chemotaxis, and altered intracellular metabolism processes (higher activity of peroxidase, chloroacetate esterase, acid, and alkaline phosphatase, and a lower glycogen content) have been described in the literature [8,10]. Repeated transfusions can lead to severe iron overload, and in consequence, to progressive organ failure [2,14]
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