MORPHOLOGICAL AND GENETIC BASIS OF STRUCTURAL AND FUNCTIONAL CHANGES IN ORGANS IN BETA THALASSEMIA AND CYSTIC FIBROSIS

Abstract

Genetic disorders represent a major health challenge worldwide. Among the most important hereditary diseases are Beta Thalassemia and Cystic Fibrosis. These disorders are caused by mutations in specific genes that affect normal physiological processes and lead to severe systemic complications. Beta thalassemia results from mutations in the HBB gene responsible for beta-globin chain production in hemoglobin. The disorder leads to ineffective erythropoiesis, chronic anemia, and structural changes in the bone marrow, liver, and spleen. Patients often require lifelong blood transfusions and medical management. Cystic fibrosis is caused by mutations in the CFTR gene, which regulates chloride ion transport across epithelial cell membranes. The mutation leads to thick mucus accumulation in respiratory and digestive organs, resulting in chronic infections, lung damage, and pancreatic dysfunction.