ISSN : 2663-2187

Inherited Rare Platelet Disorder

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Laila M Sherief, Marwa Zakaria, Ahmed Ali Abd El Fattah, Mona S.Hamed
ยป doi: 10.48047/AFJBS.6.2.2024.1482-1494

Abstract

Hemostasis is just one of many physiological and pathological processes in which platelets are pivotal. Thus, proper survival and functioning, in addition to the daily production of around 1011 platelets, are life-essential occurrences. There is a diverse collection of approximately sixty rare diseases known as inherited platelet disorders (IPDs). These disorders can impact either platelet count or platelet functioning and are caused by molecular defects in numerous genes. Their clinical significance ranges from practically non existent to potentially fatal, depending on the disease and even within the same type. Among the many possible clinical manifestations of IPDs are mucocutaneous bleeding diathesis (epistaxis, gum bleeding, purpura, menorrhagia), . Critically important are prompt and precise diagnoses of IPDs as well as thorough medical follow-up for patients. Because many IPDs have a correlation between genotype and phenotype, a molecular diagnosis is crucial for effective clinical therapy. The widespread use of high throughput sequencing (HTS) methods in the investigation of inherited polymorphisms (IPDs) has substantially simplified genetic diagnosis. On the other hand, generic genetic investigations still have several unanswered ethical questions. Despite improvements in diagnosis, clinical therapy of IPDs has remained stagnant. There are a few therapy options for life-threatening IPDs, including platelet transfusions, thrombopoietin receptor agonists, and allogeneic hematopoietic stem cell transplantation. One potential future approach is gene therapy. A professional hematology service with multidisciplinary support must conduct regular follow-up, particularly for syndromic IPDs.

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