Platelet storage pool deficiency
Platelet storage pool deficiency is a family of clotting disorders characterized by deficient granules in platelets. Individuals with these disorders have too few or abnormally functioning alpha granules, delta granules, or both alpha and delta granules and are therefore unable to form effective clots, which leads to prolonged bleeding. Platelet storage pool deficiency can be acquired or inherited.
Symptoms and signs
The symptoms individuals with platelet storage pool deficiency may experience include the following:- Easy bruising
- Nose bleeds
- Bleeding from gums
- Heavy or prolonged menstrual bleeding or bleeding after childbirth
- Abnormal bleeding after surgery, circumcision, or dental work
Cause
Platelet storage pool deficiency can be acquired or inherited. Inheritance may be autosomal dominant or autosomal recessive, depending on the specific disorder.Some of the causes of platelet storage pool deficiency when acquired are:
Mechanism
In terms of the pathophysiology of platelet storage pool deficiency one must consider several factors including the human body's normal function prior to such a deficiency, such as platelet alpha-granules one of three types of platelet secretory granule.Platelet α–granules are important in platelet activity. α–granules connect with plasma membrane. This in turn increases the size of the platelet. Platelet α–granules have an important role in hemostasis as well as thrombosis. SNARE accessory proteins control the secretion of α–granule.
Diagnosis
The diagnosis of this condition can be done via the following:- Flow cytometry
- Bleeding time analysis
- Platelet aggregation function study:
Types
This condition may involve the alpha granules or the dense granules. Some common inherited disorders associated with each include the following:- Platelet alpha-granules
- * Gray platelet syndrome
- * Quebec platelet disorder
- Dense granules
- * δ-Storage pool deficiency
- * Hermansky–Pudlak syndrome
- * Chédiak–Higashi syndrome