Haemophilia A: A Genetic Analysis

1686 Words7 Pages
The human genome is a complex set of instructions directing a person’s growth and development. However, unlike a printed book, the human genome can change. These changes can affect the individual bases (A, C, G or T) or much larger chunks of DNA or even chromosomes. Our DNA provides the code for making proteins, the molecules that perform most of the functions in our body. However, when a section of our DNA is changed in some way, the protein it codes for is also affected and may no longer be able to carry out its normal function. Depending on where these mutations occur, they can have little or no effect, or may profoundly alter the biology of cells in our body, resulting in a genetic disorder.
Haemophilia A, also known as factor VIII (FVIII)
…show more content…
Bleeds can occur internally, into joints and muscles, or externally, from minor cuts or trauma. How frequently a person bleeds and the severity of those bleeds depends on how much FVIII is in the plasma, the straw-coloured fluid portion of blood. While living with haemophilia A is not life threatening it can greatly effect quality of life depending on the severity of the disease in the sufferer. The severity of the disease is determined by the levels of FVIII in the plasma, the straw-coloured fluid portion of blood. FVIII is a protein produced in liver sinusoidal and endothelial cells outside of the liver throughout the body, while the protein is not needed it circulates in the bloodstream in an inactive from until an injury that damages blood vessels occurs, at which point it flows to the point of injury and clots to stop the blood flow. Normal plasma levels of FVIII range from 50% to 150% [1]. Levels below 50%, or half of what is needed to form a clot, these plasma levels are the determining factor in discovering the severity and symptoms of haemophilia. Haemophilia A has three levels of severity, these are mild haemophilia (6% up to 49% of FVIII in the blood), bleeding will only occur after surgery or serious injury, moderate haemophilia (1% up to 5% of FVIII in the blood) [2], which will cause spontaneous bleeding episodes and continuous bleeding after…show more content…
The main treatment for haemophilia A is called replacement therapy and uses a concentrated FVIII product, called clotting factor or simply factor, to replace the clotting factor which is missing. Factor VIII products can be made from human-derived pools of donor-sourced plasma from blood, the risk of contracting an infectious disease from the which has been treated to prevent spread of diseases like hepatitis. Due to the through treating and screening of the donated blood, the risks of contracting an infectious disease from the clotting factor treatment is very small. Alternatively, this risk can be eliminated by the use of a new form of the original clotting factor called recombinant factor products, which are developed in a lab through the use of DNA technology, and preclude the use of human-derived pools of donor-sourced plasma. Approximately 75% of the haemophilia community takes a recombinant FVIII product instead of the clotting face derived of donated plasma, and the Medical and Scientific Advisory Council (MASAC) of the National Haemophilia Foundation encourages the use of recombinant clotting factor products instead because they are safer than alternate methods and the use of Factor VIII product made from donated plasma. These factor therapies are infused intravenously through a vein in the arm or a port in
Get Access