Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited condition that affects the bone marrow’s ability to make healthy blood cells (bone marrow failure).
Symptoms include severe anemia with a reduced number of red and white blood cells and platelets, resulting in an increased risk for bruising and bleeding episodes, and certain cancers. Symptoms can be present at birth or begin in the first few years of life.
This condition is caused by pathogenic (disease-causing) variants in the MPL gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 57 chance to be a carrier. Carriers typically do not experience any symptoms.
Another name for this condition is MPL-related conditions.
Resources:
Genetic and Rare Diseases Information Center (GARD)
Platelet Disorder Support Association (PDSA)
Revised July 2022
