Current Knowledge on Inherited Platelet Function Disorders

Jung, Nani; Shim, Ye Jee

doi:10.15264/cpho.2020.27.1.1

Cited by 5 publications

(21 citation statements)

References 77 publications

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“…If the patient shows thrombocytopenia, platelet size should guide further evaluation [ 4 ]. Microthrombocytopenia (thrombocytopenia with small platelet size) includes Wiskott-Aldrich syndrome (WAS) and x-linked thrombocytopenia (XLT) [ 4 , 8 ]. Thrombocytopenia with normal platelet size is related with various IPDSs and acquired disorders, and macrothrombocytopenia (thrombocytopenia with large platelet size) can be seen in Bernard-Soulier syndrome (BSS), MYH9-related disease, 22q deletion syndrome, and Paris/Trousseau/Jacobsen syndrome (PT/J) [ 4 , 8 , 11 ].…”

Section: Laboratory Tools For the Diagnosis Of Ipdsmentioning

confidence: 99%

“…The prevalence of IPDs is considered very low, approximately 1 in 10 4-6 persons worldwide [ 4 , 5 ]. In Korea, the exact prevalence is unknown, although sporadic cases have been reported [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

“…Generally, IPDs can be classified based on their altered platelet function. However, in many instances, a definite distinction between disorders of platelet adhesion, activation, secretion, aggregation, and procoagulant activity is doubtful [ 6 , 8 ]. Therefore, the classification of IPDs according to abnormalities of platelet components that share common features has been suggested ( Table 1 ) [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

“…However, in many instances, a definite distinction between disorders of platelet adhesion, activation, secretion, aggregation, and procoagulant activity is doubtful [ 6 , 8 ]. Therefore, the classification of IPDs according to abnormalities of platelet components that share common features has been suggested ( Table 1 ) [ 8 ]. Although this classification can help understand the pathophysiology and characteristics of each IPD, a specific subtype of IPD is diagnosed by synthesizing various test results in real-world clinical practice.…”

Section: Introductionmentioning

confidence: 99%

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Diagnostic workup of inherited platelet disorders

Kim

2022

Blood Res

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Inherited platelet disorders (IPDs) can cause mucocutaneous bleeding due to impaired primary hemostatic function of platelets, thrombocytopenia, or both. Recent advances in molecular technology can help identify many genes related to platelet biology, control the overall steps of megakaryopoiesis, and cause IPD. In this article, currently available laboratory tools for diagnosing IPDs with the characteristic laboratory features of each IPD are reviewed, and a general diagnostic approach for the evaluation of IPD patients is presented.

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Section: Laboratory Tools For the Diagnosis Of Ipdsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Diagnostic workup of inherited platelet disorders

Kim

2022

Blood Res

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“…Inherited platelet function disorders (IPFDs) are a heterogeneous disease group associated with congenital defects in platelet function, including adhesion, activation, signal transduction, granule secretion, aggregation, and procoagulant activity [ 1 , 2 ]. Glanzmann thrombasthenia (GT) (OMIM #273800) is the most representative IPFD with a life-long bleeding phenotype [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)

Yang

Shim

Kim

et al. 2021

Genes

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The diagnosis of inherited platelet function disorders (IPFDs) is challenging owing to the unavailability of essential testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. This study, conducted by the Korean Pediatric Hematology Oncology Group from March 2017 to December 2020, aimed to identify the causative genetic variants of IPFDs in Korean patients using next-generation sequencing (NGS). Targeted exome sequencing, followed by whole-genome sequencing, was performed for diagnosing IPFDs. Of the 11 unrelated patients with suspected IPFDs enrolled in this study, 10 patients and 2 of their family members were diagnosed with Glanzmann thrombasthenia (GT). The variant c.1913+5G>T of ITGB3 was the most common, followed by c.2333A>C (p.Gln778Pro) of ITGB2B. Known variants of GT, including c.917A>C (p.His306Pro) of ITGB3 and c.2975del (p.Glu992Glyfs*), c.257T>C (p.Leu86Pro), and c.1750C>T (p.Arg584*) of ITGA2B, were identified. Four novel variants of GT, c.1451G>T (p.Gly484Val) and c.1595G>T (p.Cys532Phe) of ITGB3 and c.1184G>T (p.Gly395Val) and c.2390del (p.Gly797Valfs*29) of ITGA2B, were revealed. The remaining patient was diagnosed with platelet type bleeding disorder 18 and harbored two novel RASGRP2 variants, c.1479dup (p.Arg494Alafs*54) and c.813+1G>A. We demonstrated the successful application of NGS for the accurate and differential diagnosis of heterogeneous IPFDs.

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