Abstract
Thalassemia (thal) is a hereditary chronic hemolytic anemia due to a partial or complete deficiency in the production of globin chains, in most cases, α or β, which compose, together with the iron-containing porphyrins (hemes), the hemoglobin molecules in red blood cells (RBC). The major clinical symptom of β-thal is severe chronic anemia—a decrease in RBC number and their hemoglobin content. In spite of the improvement in therapy, thal still severely affects the quality of life of the patients and their families and imposes a substantial financial burden on the community. These considerations position β-thal, among other hemoglobinopathies, as a major health and social problem that deserves increased efforts in research and its clinical application. These efforts are based on clinical studies, experiments in animal models and the use of erythroid cells grown in culture. The latter include immortal cell lines and cultures initiated by erythroid progenitor and stem cells derived from the blood and RBC producing (erythropoietic) sites of normal and thal donors, embryonic stem cells, and recently, "induced pluripotent stem cells" generated by manipulation of differentiated somatic cells. The present review summarizes the use of erythroid cultures, their technological aspects and their contribution to the research and its clinical application in thal. The former includes deciphering of the normal and pathological biology of the erythroid cell development, and the latter—their role in developing innovative therapeutics—drugs and methods of gene therapy, as well as providing an alternative source of RBC that may complement or substitute blood transfusions.
Highlights
ThalassemiaThalassemia is an autosomal recessive hereditary hemolytic anemia because of a partial or complete deficiency in the synthesis of one of the globin chains, mainly the α (α-thal) or β (β-thal), which compose, together with the iron-containing protoporphyrin—heme, the major adult hemoglobin (HbA), a tetramer of α2β2
Human stem cell cultures were originated from various sources, such as embryonic, neonatal cord blood, bone marrow, and peripheral blood as well as induced pluripotent stem cells derived from somatic cells
Induced pluripotent stem cells, produced by molecular manipulation of somatic cells have been studied as potential sources of hematopoietic stem cells (HSC)-derived erythroid cultures
Summary
Thalassemia (thal) is an autosomal recessive hereditary hemolytic anemia because of a partial or complete deficiency in the synthesis of one of the globin chains, mainly the α (α-thal) or β (β-thal), which compose, together with the iron-containing protoporphyrin—heme, the major adult hemoglobin (HbA), a tetramer of α2β2 It is caused by one or more of several hundred mutations in the corresponding genes [1]. The advanced age of the patients and the length of the treatment generate new symptoms Examples of the latter are the consequences of RBC transfusions, which in severe cases, are performed every 3 weeks. Thal severely affects the quality of life of the patients and their families and imposes a substantial financial burden on the community (especially in low-income countries) These considerations position β-thal, among other hemoglobinopathies such as sickle cell disease, as major health and social problem that deserves increased efforts in research and its clinical application. The former includes deciphering of normal and pathological biology of erythroid cell development, and the latter involves their potential use as a source of RBC for transfusions and their role in gene therapy
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
