Model facilitates research on the second most common form of sickle cell disease

A single set of mutations in a gene encoding part of the oxygen-carrying molecule hemoglobin causes sickle cell disease. However, there are several different versions of these mutations, with a combination of overlapping and distinct symptoms. Much of the existing sickle cell research focuses on the most common mutation. The second most common mutation, present in 30% of patients, lacks dedicated models, hindering research efforts. A study led by Shondra Pruett-Miller, PhD, Department of Cell & Molecular Biology, and Mitchell Weiss, MD, PhD, Department of Hematology chair, established a mouse model of this second most common form of sickle cell, called HbSC disease. The new model accurately replicates human symptoms, some of which are distinct from those caused by the most common mutation. This advancement will help scientists document the unique aspects of HbSC disease and lead to investigations of therapeutic interventions specific to its pathology. The findings were published in Blood Advances.

“This HbSC mouse model opens new doors for understanding the disease and advancing targeted treatments,” Pruett-Miller said. “We’re already working to develop genome editing strategies aimed at correcting the HbSC mutation and its underlying pathophysiology.”