SNP Shot: Genomic Insights

Gray platelet syndrome (GPS) is a bleeding disorder characterized by dysfunctional platelets, the small blood cells responsible for forming clots. Individuals with GPS typically bruise easily and are prone to nosebleeds (epistaxis). They may also experience prolonged or excessive bleeding after surgeries, dental procedures, or minor injuries. Women with GPS frequently suffer from irregular and heavy menstrual periods (menometrorrhagia). Although bleeding issues are generally mild to moderate, life-threatening episodes have occurred in rare cases.

Myelofibrosis, a condition involving the accumulation of scar tissue (fibrosis) within the bone marrow, is another prevalent symptom of GPS. The bone marrow, located inside long bones, is the primary site for blood cell production, including platelets. Myelofibrosis impairs the bone marrow's ability to produce sufficient blood cells. To compensate, other organs, especially the spleen, begin to produce blood cells, often resulting in an enlarged spleen (splenomegaly).

Inheritance:

GPS caused by mutations in the NBEAL2 gene follows an autosomal recessive inheritance pattern. This means that both copies of the gene in each cell must be mutated for the condition to manifest. In this case, each parent of an affected individual carries one copy of the mutated gene. GPS can also be inherited through an autosomal dominant pattern, where only one mutated copy of a gene in each cell is enough to cause the disorder. Typically, an affected individual inherits the condition from a parent who also has GPS. Researchers are currently investigating the specific gene(s) responsible for the autosomal dominant form of GPS.