What is Macrothrombocytopenia – progressive deafness?
• Macrothrombocytopenia – progressive deafness: A rare inherited disorder characterized by blood clotting problems due to abnormal blood platelet shape and progressive sensorineural hearing loss. The hearing loss starts prior to the 3rd decade with profound hearing loss occurring by the 4th decade. The platelet disorder starts in early childhood but usually causes no symptoms. Macrothrombocytopenia – progressive deafness is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Macrothrombocytopenia – progressive deafness, or a subtype of Macrothrombocytopenia – progressive deafness, affects less than 200,000 people in the US population. Source – National Institutes of Health (NIH) Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Macrothrombocytopenia – progressive deafness as a “rare disease”.