Authors: Ainsley R Hartman, Vincent S Gallicchio.
Beta-thalassemia, a hereditary blood disorder caused by point mutations affecting beta-globin synthesis, impairs erythrocyte oxygen transport. Due to its resistance, beta-thalassemia originally propagated in regions with high malaria prevalence. More recently, it has spread globally through human migration, impacting millions. Early screening of beta-thalassemia can be preconception, fetal, and infant testing and is vital for diagnosis and treatment plans. The types major, minor, and intermedia are classified based on their respective mutations and result in various symptoms ranging in severity. Regular erythrocyte transfusions replace faulty blood cells to treat thalassemia major. These transfusions cause iron overload, a severe side effect that is often treated with chelation therapy. Currently, the only cure for beta-thalassemia is hematopoietic stem cell transplantation. Hematopoietic stem cells are undifferentiated cells in the red bone marrow that proliferate and differentiate into various blood cells, including erythrocytes. Transplantation replaces deleterious hematopoietic stem cells with healthy ones that can differentiate into erythrocytes with full oxygen-carrying capacity. While an effective cure, there are many challenges pre-transplantation and post-transplantation; for example, finding suitable donors and preventing complications. Through medical advances in stem cell exploration and gene editing techniques, research continues to progress and discover potential cures. CRISPR-Cas, a prominent gene editing tool, has found success in identifying and modifying specific gene sequences. Researchers hope to apply CRISPR-Cas to the beta-globin synthesis gene and prevent beta-thalassemia. As technology advances, the practical and ethical challenges of accessibility, cost, and safety persist at the forefront of patient care.
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