Advancements in the Diagnosis, Treatment, and Management of Haemophilia A: A Comprehensive and Literature Research Review
Anshika
Guide: Mr. Rajkumar Mishra (Associate Professor)
IEC College ,Greater Noida
ABSTRACT
An uncommon genetic illness called haemophilia A impairs the blood's capacity to clot, which causes excessive bleeding and bruising. It is brought on by a lack of clotting factor VIII, a protein required for blood coagulation. The X-linked recessive disorder haemophilia A primarily affects male since they acquire the defective gene from their mothers. However, females are also capable of carrying the illness.
Haemophilia A signs and symptoms can differ from person to person and can be minimal to severe. Others might experience one or more major bleeding episodes that can happen spontaneously, after an injury or surgery, or both. Some people may experience frequent nosebleeds or easy bruising. Joints, muscles, and soft tissues are the most frequent locations of bleeding, which can cause discomfort, bruising, and restricted movement. Vital organ bleeding, which may include that in the brain, can be life-threatening.
Through blood tests that evaluate the amount of factor VIII in the blood, haemophilia A can be determined. Factor VIII concentrates are given intravenously as replacement therapy for missing or insufficient factor VIII in haemophilia A patients. Treatment frequency and dosage are based on the disease severity, as well as the location and volume of bleeding. Prophylactic therapy may be important for patients with severe haemophilia A to stop bleeding episodes.
People with haemophilia A now have far greater successes and a higher quality of life because to medical advancements. Patients and their families continue to struggle with different challenges as a result of the disease, such as the requirement for frequent blood transfusions and close observation of bleeding episodes. Patients with haemophilia A may face long-term problems such joint damage and infections. Haemophilia A is a chronic illness that requires continuing therapy.
The goal of haemophilia A research is to enhance available therapies as well as understand the disease's underlying genetic and molecular causes. It entails the creation of novel therapeutics that target the fundamental causes of bleeding, such as gene therapy and non-replacement therapies. The biggest objective is to eradicate haemophilia A and enhance the lives of those who are afflicted by such a challenging a medical condition.
