Platelet storage pool deficiency
MONDO:0008495Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.
Also known as: alpha dense granule deficiency, combined alpha-delta platelet storage pool deficiency, alpha delta granule deficiency, platelet storage pool diseases, storage pool platelet disease
5 clinical trials for this condition and its sub-types.
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Scientists launch deep dive into rare bleeding and lung disease
Knowledge-focused Recruiting nowThis study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 UTC
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Scientists launch deep dive into rare genetic disease
Knowledge-focused Recruiting nowThis study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 18, 2026 00:00 UTC
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Scientists hunt for clues to fatigue in Low-Platelet patients
Knowledge-focused Recruiting nowThis study looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC