Table 2.
Clinical and laboratory characteristics of inherited platelet disorders (modified from [8]).
| Disorder | Platelet count | Platelet size and morphology | Abnormalities in platelet function | Associated clinical phenotypes | Genes affected | Inheritance |
|---|---|---|---|---|---|---|
| Glanzmann thrombasthenia (GT) | Normal | Normal | Absent aggregation with all agonists except ristocetin | None | ITAG2B, ITGB3 | AR |
| GPVI collagen receptor defect | Normal | Normal | Decreased response to collagen | None | GPVI | AR |
| P2Y12 ADP receptor defect | Normal | Normal | Small and rapidly reversible aggregation induced by ADP; impaired aggregation and secretion induced by other agonists | None | P2Y12 | AR |
| TXA2 receptor defect | Normal | Normal | Absent response to TXA2; impaired aggregation and secretion induced by other agonists | None | TXA2R | AD |
| Chediak-Higashi syndrome (CHS) | Normal | Deficiency of δ-granules on EM | Impaired aggregation and secretion induced by several agonists | Albinism; eczema; recurrent infections; lymphohistiocytosis | LYST | AR |
| Hermansky-Pudlak syndrome (HPS) | Normal | Deficiency of δ-granules on EM | Impaired aggregation and secretion induced by several agonists | Albinism; pulmonary fibrosis; lysosomal storage disease | HPS1, HPS3, HPS4, HPS5, HPS6, BLOC1S3 | AR |
| Scott syndrome | Normal | Normal | Normal | None | TMEM16F | AR |
| Bernard-Soulier syndrome (BSS) | Decreased | Large platelets | Absent aggregation with ristocetin, normal with other agonists | None | GPIBA, GPIBB, GPIX, ITGB3 | AR |
| Gray platelet syndrome (GPS) | Decreased | Large, pale platelets with absence of α granules | Heterogeneity of response to agonists | Myelofibrosis, pulmonary fibrosis | NBEAL2 | AR, AD |
| Wiskott-Aldrich syndrome (WAS) | Decreased | Small platelets; Deficiency of δ-granules on EM | Impaired aggregation and secretion induced by several agonists | Eczema; infections; immunodeficiency; autoimmune disease; malignancy | WAS | X-linked |
| Congenital amegakaryocytic thrombocytopenia (CAMT) | Decreased | Normal | Normal | Bone marrow failure | MPL | AR |
| Thrombocytopenia with absent radii (TAR) | Decreased | Normal | Normal | Decreased megakaryocytes, limb abnormalities | Y19 | AR |
| Amegakaryocytic thrombocytopenia with radio-ulnar synostosis (ATRUS) | Decreased | Normal | Normal | Skeletal abnormalities, hearing loss | HOXA11 | AD |
| Familial platelet disorder with predisposition to AML (FPD/AML) | Decreased | Normal | Normal | Myelodysplasia, AML | RUNX1 | AD |
| Paris-Trousseau/Jacobsen syndrome (PT/J) | Decreased | Normal or large size with large granules | Normal | Pancytopenia, mental retardation, facial anomalies, cardiac anomalies | ETS1, FLT1 | AD |
| GATA-1 mutation of X-linked thrombocytopenia with thalassemia | Decreased | Normal | Normal | Anemia | GATA1, FOG1 | X-linked |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; EM, electron microscopy; GP, glycoprotein; TXA2, thromboxane A2; vWD, von Willebrand disease; vWF, von Willebrand factor.