Trombocitopenie ereditară
Un grup de afecțiuni care cauzează un număr scăzut de trombocite pe tot parcursul vieții, asociate cu gene precum MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 și MECOM și transmise după un model dominant, recesiv sau legat de cromozomul X.
Ce schimbă un diagnostic
Un diagnostic genetic evită confundarea cu trombocitopenia imună, cu administrarea inutilă de steroizi sau cu extirparea splinei, și ghidează monitorizarea problemelor asociate la rinichi, la auz sau la nivelul sângelui.
Gene analizate
Denumită și
hereditary thrombocytopenia
Include 57 subtipuri înrudite ↓Ascunde subtipurile ↑
- ACTB-associated syndromic thrombocytopenia
- alpha granule disease
- amegakaryocytic thrombocytopenia, congenital, 2
- autosomal dominant macrothrombocytopenia
- beta-thalassemia-X-linked thrombocytopenia syndrome
- bleeding disorder, platelet-type, 21
- congenital amegakaryocytic thrombocytopenia
- congenital amegakaryocytic thrombocytopenia 1
- congenital autosomal recessive small-platelet thrombocytopenia
- congenital thrombotic thrombocytopenic purpura
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- erythrokeratodermia variabilis et progressiva 4
- GATA1-related cytopenia
- GNE myopathy
- gray platelet syndrome
- isolated delta-storage pool disease
- Jacobsen syndrome
- macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- macrothrombocytopenia, isolated
- macrothrombocytopenia, isolated, 1, autosomal dominant
- macrothrombocytopenia, isolated, 2, autosomal dominant
- marcothrombocytopenia with mitral valve insufficiency
- MECOM-associated syndrome
- Medich giant platelet syndrome
- Paris-Trousseau thrombocytopenia
- platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
- platelet storage pool deficiency
- platelet-type bleeding disorder 15
- platelet-type bleeding disorder 17
- platelet-type bleeding disorder 20
- Quebec platelet disorder
- radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- radioulnar synostosis with amegakaryocytic thrombocytopenia 1
- radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Stormorken syndrome
- syndromic constitutional thrombocytopenia
- Takenouchi-Kosaki syndrome
- thrombocytopenia 1
- thrombocytopenia 10
- thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
- thrombocytopenia 12 with or without myopathy
- thrombocytopenia 13, syndromic
- thrombocytopenia 2
- thrombocytopenia 3
- thrombocytopenia 4
- thrombocytopenia 5
- thrombocytopenia 6
- thrombocytopenia 7
- thrombocytopenia 9
- thrombocytopenia with congenital dyserythropoietic anemia
- thrombocytopenia-absent radius syndrome
- thrombocytopenia, anemia, and myelofibrosis
- thrombocytopenia, cyclic
- thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- TPM4-related platelet disorder
- white platelet syndrome
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
