Pathomechanisms of Immunological Disturbances in β-Thalassemia

• Published in: International journal of molecular sciences 2021-09, Vol.22 (18), p.9677
• Main Authors: Gluba-Brzózka, Anna, Franczyk, Beata, Rysz-Górzyńska, Magdalena, Rokicki, Robert, Koziarska-Rościszewska, Małgorzata, Rysz, Jacek
• Format: Article
• Language: English
• Subjects: Abnormalities; Anemia; Apoptosis; Bacterial infections; Biological activity; Blood diseases; Blood transfusion; Blood transfusions; Bone marrow; Chelation; Chemokines; Chemotaxis; Chronic illnesses; Hemoglobin; Immune system; immunological disturbances; Immunology; Innate immunity; Iron; Leukocytes (neutrophilic); Leukocytes (polymorphonuclear); Lymphocytes; Lysozyme; Mutation; Neutrophils; Organs; Oxidative stress; Pathogenesis; Patients; Phagocytes; Properdin; Review; Splenectomy; Streptococcus infections; Thalassemia; β-thalassemia
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms22189677

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.