Gray Platelet Syndrome (NBEAL2)
Gray platelet syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the gene NBEAL2. The onset of this disorder is in infancy or early childhood. Gray platelet syndrome is characterized by: excessive and prolonged bleeding after injury, surgery, or childbirth; heavy or prolonged menstrual bleeding (menorrhagia); nosebleeds (epistaxis); and easy bruising. Some individuals also have a buildup of scar tissue in the bone marrow (myelofibrosis) leading to decreased production of blood cells. The life expectancy of this condition is typically normal with proper treatment. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.