::: Clinical Pediatric Hematology-Oncology :::

Table. 1. Table 1

Classification of inherited platelet function disorders according to the altered platelet functions

Function	Disease	Gene	Inheritance	Defect
Adhesion	Bernard–Soulier syndrome	GPIBA, GPIBB, GP9	AR (rarely AD)	GPIb/V/IX
Adhesion	Pseudo-von Willebrand disease	GPIBA	AD	GPIbα
Activation	ADP receptor P2Y₁₂ defect	P2RY12	AR	ADP receptor
Activation	TXA2 receptor defect	TBXA2R	AD	TXA2 receptor
Secretion	Gray platelet syndrome	NBEAL2	AR (rarely AD)	a-Granule
	Paris–Trousseau/Jacobsen syndrome	FLI1	AD	a-Granule
	Chediak–Higashi syndrome	LYST	AR	Dense granule
	Hermansky–Pudlak syndrome	HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6	AR	Dense granule
Aggregation	Glanzmann thrombasthenia	ITGA2B, ITGB3	AR	GPIIb/IIIa
Procoagulant activity	Scott syndrome	ANO6	AR	PS expression

AR, autosomal recessive; AD, autosomal dominant; GP, glycoprotein; ADP, adenosine diphosphate; TXA2, thromboxane A2; PS, phosphatidylserine.

Clin Pediatr Hematol Oncol 2020;27:1-13