Punam Malik, MD, Director, Comprehensive Sickle Cell Program.

Punam Malik, MD, Director, Comprehensive Sickle Cell Program

Researchers may have found what is behind the heart complications that afflict and kill many patients with sickle cell anemia (SCA).

A study published August 2016 in PNAS (Proceedings of the National Academy of Sciences) links malfunctioning molecular pathways to specific heart anomalies in SCA. The findings open a path to earlier non-invasive diagnosis and targeted therapies to help patients live longer with better quality of life.

Using mice bred to mimic human SCA, researchers identified changes in gene expression that resulted in hypoxia and fibrosis in heart tissues. The changes also brought about harmful electrophysiological changes. A significant number of the animals experienced sudden death.

“Sickle cell anemia is associated with significant morbidity and mortality, including a high incidence of unexplained sudden death in young adults,” says Punam Malik, MD, senior author and Director of the Comprehensive Sickle Cell Program. “Our findings may provide a unifying cardiac pathophysiology that explains cardiac abnormalities and sudden death seen in humans with SCA.”