After eight years of searching, UW-Madison scientists found the cause of a rare genetic blood disorder.
Medical director for the UW Advanced Cell Therapy program Ingra Hofmann and her team recently discovered that mutations in a protein — which controls the production of blood platelets — appear to be the source of a form of macrothrombocytopenia with focal myelofibrosis, a genetically inherited blood disorder.
The team began searching for the cause of this disorder in 2010 after Hofmann was asked to help multiple families with their children’s cases of myelofibrosis, a condition where bone marrow is replaced by scar tissue.
Myelofibrosis is normally caused by a type of blood cancer; however, when that condition isn’t present, Hofmann and her team found that the cause is from the protein G6b-B mutating and leading to abnormal megakaryocytes (large bone marrow cells), marrow scarring and low platelet counts.
The disorder is very rare with only about 50 cases ever reported.
Now that the cause of the disorder has been found, Hofmann and her team are prepared to find a solution to the effects of the disorder.
“If we could manipulate the pathway involving the G6b-B protein in myelofibrosis patients, we might be able to restore normal platelet-producing cells in the bone marrow cells and stimulate the production of normal blood cells,” Hofmann said.
