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. 2020 Mar;63(3):79-87.
doi: 10.3345/kjp.2019.00052. Epub 2020 Feb 6.

Genetic Classification and Confirmation of Inherited Platelet Disorders: Current Status in Korea

Free PMC article

Genetic Classification and Confirmation of Inherited Platelet Disorders: Current Status in Korea

Ye Jee Shim. Clin Exp Pediatr. .
Free PMC article


Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

Keywords: Bernard-Soulier syndrome; Blood platelet disorders; Gray platelet syndrome; MYH9-related disorders; Platelet storage pool deficiency; Thrombasthenia.

Conflict of interest statement

No potential conflict of interest relevant to this article was reported.


Fig. 1.
Fig. 1.
Identified genes associated with inherited platelet disorders. Each of the genes can be classified according to the specific pathway that is disrupted in megakaryopoiesis or platelet formation. HSC, hematopoietic stem cell; MK, megakaryocyte; GP, glycoprotein; GPCR, G-protein-coupled receptor. Adapted from Lentaigne et al., Blood 2016;127: 2814-23 [7].
Fig. 2.
Fig. 2.
Diagnostic sequence and flow in inherited platelet disorders (IPDs). BM, bone marrow; WAS, Wiskott-Aldrich syndrome; XLT, X-linked thrombocytopenia; CAMT, congenital amegakaryocytic thrombocytopenia; RUSAT, radioulnar synostosis with amegakaryocytic thrombocytopenia; TAR, thrombocytopenia-absent radius; QPD, Quebec platelet disorder; XLTDA, X-linked thrombocytopenia with or without dyserythropoietic anemia; MYH9, MYH9-related disorders; BSS, Bernard-Soulier syndrome; vWD, von Willebrand disease; 22q11 del, 22q11 deletion syndrome; GPS, gray platelet syndrome; JS, Jacobsen syndrome; PTS, Paris-Trousseau syndrome; GT, Glanzmann thrombasthenia; HPS, Hermansky-Pudlak syndrome; CHS, Chediak-Higashi syndrome.

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