User:Rohanbhattaram/Harris platelet syndrome

Lead
'''Harris Platelet Syndrome (HPS), previously known as asymptomatic constitutional macrothrombocytopenia, is the most common IGPD (inherited giant platelet disorder) in the Indian subcontinent. It is characterized by a functional thrombocytopenia due to the presence of giant platelet cells.'''

Presentation
HPS was identified among healthy blood donors in the north-eastern part of the Indian subcontinent, characterized by absent bleeding symptoms, mild to severe thrombocytopenia (platelets rarely < 50 × 109/L) with giant platelets (Mean platelet volume 10fL) and normal platelet aggregation studies with absent MYH9 mutation.

In the blood donors with HPS authors found a statistically higher MPV, RDW and a lower platelet count and platelet biomass.

HPS has been discovered in those without a North-east Indian ethnic background, broadening the scope of possible ethnicities that are effected and emphasizing the importance of adequate laboratory studies .

Diagnosis
At present the diagnosis of HPS is made by ascertaining the ethnicity of the patient, as well as assessing for conditions causing acquired thrombocytopenias, and after also excluding the known inherited giant platelet disorders(IGPD) and other congenital thrombocytopenias. The diagnostic approach typically consists of blood tests and blood smears to check for platelet count, size, and morphology; more advanced tests can be used to determine platelet function '''. Genetic testing is also commonly done.'''

Treatment[edit]
'''Patients with HPS do not suffer from bleeding disorders despite a low platelet count. The unique structure of the megakaryocytes allow them to be functional in clotting, therefore making HPS relatively benign. Additionally, it has been found that patients with HPS have a low risk of bleeding during surgery .'''

Unfortunately some patients with IGPD are treated inappropriately with corticosteroids, immunoglobulin infusions and even splenectomy.

Pathophysiology
'''Actin-binding proteins have been linked to maintaining the structure of the large platelets.  However, enzymatic activity allows for functional clotting activity regardless of the size of the thrombocytes. Genomic studies have found mutations in various pathways that could be the cause of HPS, but further studies are required .'''

Prevalence[edit]
'''Harris platelet syndrome has been found in up to one-third of all blood donors In the West Bengal region of India. It is also frequently found in the North-east region of South Asia, including Nepal, Bhutan, and Bangaldesh in addition to India.'''

Terminology[edit]
In 2002, this syndrome was called "asymptomatic constitutional macro thrombocytopenia" (ACMT).

In 2005, to avoid confusion between ACMT and congenital amegakaryocytic thrombocytopenia (CAMT) this CAMT entity was referred as Harris platelet syndrome.