...Nabin Raj Karki; Germame Ajebo; Natasha Savage; Abdullah Kutlar Macrothrombocytopenia (MTP) is a group of rare disorders characterized by giant platelets, thrombocytopenia, and variable association with abnormal bleeding. Inherited MTP are frequently misdiagnosed as immune thrombocytopenia...

...-IIA/β-actin ratio for MYH9-RD neutrophils was 39% of normal controls. Kidney biopsy showed segmental glomerulosclerosis and NMMHC-IIA expression was decreased in podocytes. This disease is not as rare as originally thought. In any individual with persistent macrothrombocytopenia and no response...

... manifestations include tendon and tuberous xanthomas and premature coronary heart disease; it has occasionally been associated with hematologic abnormalities. Aims: We report a phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis and discuss its clinical...

..., instructions or products referred to in the content or advertisements. GPIb/IX/V complex Macrothrombocytopenia Bernard-Soulier syndrome Bernard-Soulier syndrome (BSS) is a rare autosomal recessive platelet disorder characterized by giant platelets, thrombocytopenia and a prolonged bleeding time...