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 hunt for hidden genetic causes of rare bleeding disorder
Knowledge-focused CompletedThis study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…
Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Knowledge-focused
Last updated Jul 01, 2026 00:00 UTC
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Study sheds light on hidden cause of unexplained bleeding
Knowledge-focused CompletedThis study looked at 166 people with unexplained bleeding to find out how many have problems with tiny granules inside their platelets. These granules help blood clot. The researchers measured granule number, content, and release, and checked if these defects were linked to bleed…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC