Platelet Storage Pool Deficiency

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

GFI1B, BLOC1S6, AP3D1, DTNBP1, HPS1, RAB27A, RAB27B, AP3B1, HPS5, DOCK7, HPS3, BLOC1S5, SLC7A11, HPS4, LYST, HOXD13, RUNX1, ABCC4, PRDX5, TFF1, F10, CSF3

Drugs

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Platelet 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 syndrome/resources/1" target="_blank">Hermansky-Pudlak syndrome, syndrome/resources/1" target="_blank">Chediak-Higashi syndrome, syndrome/resources/1" target="_blank">thrombocytopenia-absent radius (TAR) syndrome, and syndrome/resources/1" target="_blank">Wiskott-Aldrich syndrome. Treatment is symptomatic.