A new congenital disease has been discovered: a hereditary form of anemia. Researchers Judith Jans, Richard van Wijk, and pediatric hematologist Marije Bartels of UMC Utrecht published the results in the scientific journal Blood.
It began with a young patient who had long been dealing with unexplained symptoms. Three specialists worked closely together to unravel this rare condition. A quest that led to a diagnosis and a treatment within reach.
“The patient had persistent symptoms, including extreme fatigue, abdominal pain, and loss of appetite. This is something we often see in patients with hereditary anemia,” says Judith. “There are several gene changes that can cause hereditary anemia. In this patient, we observed an abnormal blood count, something we hadn’t seen before in others.” This prompted Marije Bartels and Richard van Wijk to conduct further biochemical and metabolic research, together with Judith Jans.
Richard van Wijk is head of the Red Blood Cell Diagnostics Laboratory. And Judith Jans is head of the Metabolic Diagnostics Laboratory. Judith explains: “In this patient, the red blood cells are not able to convert food into energy through metabolic processes.” The gene that produces the essential coenzyme, NAD+, is abnormal. This causes metabolic processes to stagnate. And without energy, a red blood cell shuts down and is less able to survive in circulation. We discovered that the genetic defect in the enzyme NMNAT3 causes the disease in this patient. This had never been described in science before.”
The patient suffered from anemia due to accelerated breakdown of red blood cells. One family member had similar health problems and appears to have the same genetic defect.
Based on the findings, the doctors prescribed NAD supplements, or vitamin B, to the patient. “This normalized the blood levels,” his doctors said. This disease appears to be treatable, but it’s important for scientists to study more patients with an abnormal NMNAT3 gene to gain a better understanding. The scientific publication can contribute to this.
Richard van Wijk: “We’ve posed the question for patients with the same genetic defect via the GeneMatcher platform. We want to know if doctors know of any other patients with the same genetic defect internationally. So far, no match has been found, but that could change.”
GeneMatcher was developed in 2013 by the Baylor–Hopkins Center for Mendelian Genomics in the United States. It’s of great value to doctors at UMC Utrecht, shortening the search for patients with the same possible genetic cause. If a match is found, it also leads to increased international collaboration between doctors with highly specialized knowledge and expertise in specific rare diseases.
