Ten diseases affecting platelets include:
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Bernard-Soulier syndrome: A rare inherited bleeding disorder affecting platelet adhesion. This results in larger than normal platelets that don't function properly.
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Glanzmann thrombasthenia: Another inherited bleeding disorder where platelets can't clump together (aggregate) properly, leading to impaired clotting.
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Hermansky-Pudlak syndrome: A rare genetic disorder affecting multiple organ systems, including platelets. This leads to abnormal platelet function and increased bleeding risk.
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Jacobsen syndrome: A chromosomal disorder that can cause thrombocytopenia (low platelet count), leading to bleeding problems.
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Lowe syndrome: A rare X-linked disorder characterized by intellectual disability, cataracts, and often, thrombocytopenia.
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Platelet release and storage pool defects: These disorders involve problems with the release of crucial substances from platelets, impairing their ability to initiate clotting. Various genetic defects can cause this.
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Thrombocytopenia with absent radius (TAR) syndrome: A rare genetic disorder where individuals are born with underdeveloped or missing radii (forearm bones) and have severely low platelet counts.
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Thrombotic thrombocytopenic purpura (TTP): A serious, life-threatening condition characterized by low platelet count, microangiopathic hemolytic anemia (destruction of red blood cells), and blood clots forming in small blood vessels.
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Thrombocythemia: This is a condition where there is an abnormally high number of platelets, increasing the risk of thrombosis (blood clot formation). It's not a platelet disease in itself, but a disease of platelet numbers.
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Immune Thrombocytopenic Purpura (ITP): An autoimmune disorder where the body's immune system mistakenly attacks and destroys platelets, causing thrombocytopenia. Again, not a disease of the platelet itself, but impacting their number.
These conditions highlight the diverse ways platelet function and quantity can be affected, resulting in a range of bleeding or clotting problems. Note that some conditions listed affect the number of platelets, while others affect their function.
