Medical Mystery Reveals Lethal Legacy Rare gene mutation gives researchers a puzzling opportunity
After a chilly overnight rain, sunrise in the mountains of Southeast Kentucky reveals halos of mist that drape the coal-country ridges around Pikeville. Down the road and up a long hollow lives a family of proud, hardworking people. They have forged their lives from these mountains – mining coal, rearing children and embracing their faith as they care for each other more than anything else. Now those lives are shrouded by a baffling and potentially deadly medical mystery. It started with Cincinnati Children’s physicians trying to unravel the complicated case of three-year-old Dalson Cable. They discovered his family is prone to a rare mutation involving a gene called RUNX1. It puts family members at high risk for a rare blood disorder and an aggressive form of acute myeloid leukemia (AML), according to Ashish Kumar, MD, PhD, a hematologist in the Cancer and Blood Diseases Institute at Cincinnati Children’s. “The type of mutation is so unique it has previously been described in only one other family in the world,” Kumar explains. “In fact, the mutation is not picked up by gene sequencing tests and at first we missed it.” Dalson was first referred to Kumar for what appeared to be a mild case of idiopathic thrombocytopenic purpura (ITP) – a bleeding disorder in which the immune system destroys platelets necessary for normal blood clotting. Dalson had low blood platelets as a baby and suffered from skin rashes and infections. 22
RESEARCH HORIZONS / WINTER 2013
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