The hereditary macrothrombocytopenias.
| Disorder . | Features . |
|---|---|
| (Modified from Rodriguez et al. .) Mayo Clin Proc .2003 ;78 :1416 –1421 | |
| May-Heggelin anomaly | Autosomal dominant Very large platelets Normal platelet function Leukocyte inclusions MYH9 mutation |
| Sebastian syndrome | Autosomal dominant Near normal platelet function Granulocyte inclusions distinct from those in May-Heggelin MYH9 mutation |
| Fechtner Syndrome | Autosomal dominant Granulocyte inclusions like those in Sebastian syndrome Nephritis, deafness, cataracts MYH9 mutation |
| Epstein syndrome | Autosomal dominant Platelet dysfunction No granulocyte inclusions Nephritis and deafness MYH9 mutation |
| Eckstein syndrome | Like Epstein Syndrome but normal Platelet function MYH9 mutation |
| Bernard-Soulier syndrome | Autosomal recessive Absent GpIb/IX complex Severe platelet adhesion defect |
| Grey Platelet syndrome | Autosomal recessive inheritance Absence of platelet a granules Mild platelet dysfunction |
| Giant platelets with the velocardiofacial syndrome | Autosomal recessive inheritance Defective GpIb/IX Mutation/Deletion at 22q11.2 Conotruncal heart defects Severe learning disability |
| Giant platelets and mitral valve insufficiency | Autosomal recessive inheritance Mild bleeding Absent collagen receptor (GpIa/IIa) Decreased platelet agg to ADP, thrombin Arachidonate |
| Familial macrothrombocytopenia | Autosomal dominant and GpIV deficiency Defect/absence GpIV Reduced aggregation to ADP and epinephrine Mild bleeding No neutrophil inclusions |
| Montreal platelet syndrome | Autosomal dominant inheritance Spontaneous platelet aggregation Prolonged bleeding time |
| Enyeart syndrome | Autosomal recessive inheritance Mild to severe bleeding Small inclusions in platelets |
| Mediterranean macrothrombocytopenia | Pathogenesis unclear Restricted to Greeks and Italians Some are heterozygous Bernard- Soulier carriers Many have the Bolzano variant of GpIbα Val156Ala |
| Disorder . | Features . |
|---|---|
| (Modified from Rodriguez et al. .) Mayo Clin Proc .2003 ;78 :1416 –1421 | |
| May-Heggelin anomaly | Autosomal dominant Very large platelets Normal platelet function Leukocyte inclusions MYH9 mutation |
| Sebastian syndrome | Autosomal dominant Near normal platelet function Granulocyte inclusions distinct from those in May-Heggelin MYH9 mutation |
| Fechtner Syndrome | Autosomal dominant Granulocyte inclusions like those in Sebastian syndrome Nephritis, deafness, cataracts MYH9 mutation |
| Epstein syndrome | Autosomal dominant Platelet dysfunction No granulocyte inclusions Nephritis and deafness MYH9 mutation |
| Eckstein syndrome | Like Epstein Syndrome but normal Platelet function MYH9 mutation |
| Bernard-Soulier syndrome | Autosomal recessive Absent GpIb/IX complex Severe platelet adhesion defect |
| Grey Platelet syndrome | Autosomal recessive inheritance Absence of platelet a granules Mild platelet dysfunction |
| Giant platelets with the velocardiofacial syndrome | Autosomal recessive inheritance Defective GpIb/IX Mutation/Deletion at 22q11.2 Conotruncal heart defects Severe learning disability |
| Giant platelets and mitral valve insufficiency | Autosomal recessive inheritance Mild bleeding Absent collagen receptor (GpIa/IIa) Decreased platelet agg to ADP, thrombin Arachidonate |
| Familial macrothrombocytopenia | Autosomal dominant and GpIV deficiency Defect/absence GpIV Reduced aggregation to ADP and epinephrine Mild bleeding No neutrophil inclusions |
| Montreal platelet syndrome | Autosomal dominant inheritance Spontaneous platelet aggregation Prolonged bleeding time |
| Enyeart syndrome | Autosomal recessive inheritance Mild to severe bleeding Small inclusions in platelets |
| Mediterranean macrothrombocytopenia | Pathogenesis unclear Restricted to Greeks and Italians Some are heterozygous Bernard- Soulier carriers Many have the Bolzano variant of GpIbα Val156Ala |