Problems with structure or function of platelets
Platelets are small disc shaped cells which are formed in the bone marrow. Platelets play a crucial role in helping blood to clot. The primary functions of platelets are adhesion, aggregation, activation and secretion (see below for explanations of these functions). A defect in any one of these functions will result in an increased tendency to bleed. Approximately 70-80% of platelets circulate in the bloodstream while the remainder are stored in the spleen. The average platelet lasts about 10 days.
Platelet adhesion (sticking) occurs when there is an injury to a blood vessel. Platelets attach to the lining of the injured blood vessel and begin the first phase of the clotting process.
After platelets initially begin to stick to the wall of an injured blood vessel, additional platelets are called to the site of injury. The platelets begin to aggregate (stick) to each other, forming a platelet plug.
Activation and Secretion
Granules within the platelet release specific proteins that help platelets aggregate at the site of blood vessel injury.
How are platelet disorders diagnosed?
The diagnosis of a platelet disorder involves several laboratory tests. The first tests are called screening tests: these include blood tests to look for abnormalities in the size and shape of the platelets, and a test to measure how effectively the platelets stop bleeding. Other studies may include measurement of platelet aggregation by exposing the platelets to a variety of compounds that normally cause platelets to aggregate or stick together. If these tests are abnormal, further testing of the platelets will be performed using electron microscopy to determine the specific type of platelet disorder.
What are the symptoms of a platelet disorder?
The most common symptoms of a platelet disorder are easy bruising, nosebleeds, bleeding of the mouth or gums, heavy menstrual bleeding (periods), postpartum (after child birth) bleeding, and bleeding following dental work, surgical or invasive procedures.
What is a platelet disorder?
There are 2 main categories of platelet problems that can increase your risk of bleeding.
Quantitative platelet disorder:
- A decrease in the number of normally functioning platelets
- The body either doesn’t make enough platelets; or the body does make enough platelets, but they are removed too rapidly
- A quantitative platelet disorder is the most common form of platelet disorders
Qualitative platelet disorder:
- A problem with the structure or function of the platelet
- The disorder results in a poor “quality” of clotting
- Common causes include
- Missing or defective proteins on the surface of the platelet membrane
- A deficiency or abnormality in the platelet granules or their contents (also known as a ‘storage pool disorder’)
How the IHTC can help you
The IHTC is committed to providing expert care for infants, children, teens, and adults with hemochromatosis. As a center of excellence in the treatment of bleeding and clotting disorders, the IHTC offers a high level of coordinated care for patients with this disorder. We also provide prompt communication with your local healthcare provider related to our treatment plan and your progress. The IHTC team collaborates with national experts and patient participation in research studies may be available.
At the IHTC we have clinicians who are experts in treating hemochromatosis and providing support to patients with this disorder. As every patient can experience a different rate of disease progression and different symptoms it is very important that you are seen by a clinician who is familiar with the signs and treatment of hemochromatosis. We can help you with diagnosis, testing and treatment; and can provide dietary, genetic and general counseling depending on your specific needs. For more information, please contact us at 877.CLOTTER (877.256.8837).
There are many ways to treat the symptoms of a platelet disorder. Treatment is dependent on the underlying problem and the symptoms experienced. The IHTC has vast experience treating these disorders and will work with you to decide the best treatment plan.