Journal of Blood Disorders & Transfusion

Genetic Blood Disorders

Genetic blood disorders are inherited conditions caused by mutations in genes responsible for blood cell production and function. These disorders can affect red blood cells, white blood cells, platelets, and clotting factors, leading to a wide range of health issues. Common genetic blood disorders include sickle cell disease, thalassemia, hemophilia, and von Willebrand disease.

Sickle cell disease results from a mutation in the hemoglobin gene, causing red blood cells to become rigid and sickle-shaped. These abnormal cells can block blood flow, leading to pain, infections, and organ damage. Thalassemia is characterized by reduced hemoglobin production, leading to anemia, fatigue, and growth issues. It requires regular blood transfusions and chelation therapy to manage iron overload.

Hemophilia, a disorder affecting clotting factors, leads to excessive bleeding from even minor injuries. Hemophilia A and B are caused by deficiencies in clotting factors VIII and IX, respectively. Treatment involves regular infusions of the missing clotting factor. Von Willebrand disease, another bleeding disorder, results from a deficiency or dysfunction of von Willebrand factor, affecting platelet function and clot formation.

Research in genetic blood disorders focuses on understanding the molecular mechanisms, improving diagnostic methods, and developing innovative treatments such as gene therapy. Advances in this field hold promise for curing or significantly alleviating the symptoms of these lifelong conditions, improving the quality of life for affected individuals.