Our blood contains small, sticky cells called platelets. These platelets rush to the site of injury when a cut or injury occurs to a blood vessel and an individual begins to bleed. The platelets will stick to the blood vessel and attempt to stop the leak. Other platelets are alerted when the platelets at the injure site send out a chemical signal. The platelets join together at the injury site to form a plug that stops the bleeding.
One of the proteins that helps the platelets do their job is glycoprotein. The job of these proteins is to work together to form a bridge to connect platelets with each other. Each glycoprotein has a specific target, whether it be another platelet or vessel wall. They have their own jobs to help form a plug. This is the beginning stage of a blood clot. If the proteins do not work properly then it is harder for the clotting factors to work and create a stable clot.
A platelet disorder occurs if:
- there are not enough platelets
- a normal amount of platelets are present but they do not function properly
- Platelets can not stick to blood vessel or to each other
- platelets are not able to send or receive chemical signals
Glanzmann's Thrombasthenia is a platelet function disorder. The platelets do not work correctly when an individual has this bleeding disorder. When an individual has this disorder a missing or defective glycoprotein is present. The disorder will not allow platelets to stick together through to a clotting factor. Therefore, the platelets are not able to clump together to form a plug.
Glanzmann's Thrombasthenia was discovered in children from the Swiss Alps in 1918. The discovery was made by a pediatrician from Berne, Switzerland. Dr. Eduard Glanzmann made the initial discovery and since that time the disorder has been found all over the world.
The cause of this bleeding disorder was found to be related to parents genes. Glanzmann's Thrombasthenia is an "autosomal recessive" disorder. It affects both males and females. The disease is inherited from one abnormal gene from each parent. Whether the parent has the disorder or is a carrier does not matter.
Signs and Symptoms of Glanzmann's Thrombasthenia include:
- easy bruising
- small red or purple spots on skin caused by minor broken capillaries
- bleeding from nose or gums
- heavy menstruation in women
- excessive bleeding after surgery or injury
- bleeding into head and brain resulting in headache, neck ache, drowsiness or loss of consciousness
- vomiting blood, bloody or black bowel movent
- joint bleeds