How is platelet disorder treated?

How is platelet disorder treated?

If your platelet level becomes too low, your doctor can replace lost blood with transfusions of packed red blood cells or platelets. Medications. If your condition is related to an immune system problem, your doctor might prescribe drugs to boost your platelet count. The first-choice drug might be a corticosteroid.

How is gray platelet syndrome diagnosed?

The diagnosis of GPS requires demonstration of the absence or marked reduction of α-granules in platelets observed by electron microscopy (EM). Megakaryocytes also show decreased α-granules. Platelet dense bodies and lysosomes are unaffected.

What is fechtner syndrome?

Fechtner syndrome is a rare autosomal dominant disorder consisting of macrothrombocytopenia and leukocyte inclusions, associated with Alport’s syndrome (hereditary nephropathy, sensorineural hearing loss, and ocular anomalies).

What are the symptoms of Scott syndrome?

Scott syndrome is an extremely rare, mild to moderate bleeding disorder in which there is a defective platelet phospholipid membrane support. It is characterized by provoked bleeding, including menorrhagia, epistaxis, trauma induced hematomas, oral bleeding after tooth extractions, and post-partum hemorrhage.

How is NBEAL2 related to gray platelet syndrome?

NBEAL2 contains a domain that has been implicated in vesicular trafficking, suggesting a potential role in the development of platelet α-granules. Gray platelet syndrome (GPS) is the result of homozygous mutations in NBEAL2, a regulator of membrane dynamics and vesicle trafficking, affecting α granule development.

What are the mutations in the NBEAL2 gene?

Mutations in the NBEAL2 gene were identified in multiple pedigrees with GPS. Interestingly, NBEAL2, like LYST, encodes for a protein domain known as a BEACH domain implicating an important potential role of this protein structure in granule biogenesis.

How is NBEAL2 related to myelofibrosis?

Interestingly, NBEAL2, like LYST, encodes for a protein domain known as a BEACH domain implicating an important potential role of this protein structure in granule biogenesis. Myelofibrosis in patients with NBEAL2 deficiency may be related to premature ectopic secretion of α-granules into the bone marrow by developing megakaryocytes.