Innovation

Inherited Blood Disorders: Researchers Edit Mutations In Mice, May Lead To Sickle Cell And Thalassemia Treatments

Thalassemia is a genetic blood condition that affects how hemoglobin and red blood cells are formed. There is no cure for the condition and recent research into treatment options for similar blood conditions have aimed to “edit out” the mutation responsible for the disease using gene-editing technology. This research has been limited to lab settings — until now. Scientists from Yale University succeeded in editing out the gene mutations for thalassemia in mice, and hope to repeat the success in humans.

The team used a combination of nanoparticles, synthetic pieces of DNA, and an IV injection to correct the blood disease mutation in lab mice; following the procedure, the animals no longer had any symptoms of thalassemia. In addition, these results were long lasting and still observed up to 140 days after the treatment. If this success can be repeated in humans, it could lead to a gene therapy treatment for individuals with thalassemia and other types of inherited blood conditions, such as sickle cell.

blood transfusion Individuals with severe thalassemia require regular blood transfusions. Photo Courtesy of Getty/ CHANDAN KHANNA

“We might get enough cells corrected that individuals are not anemic anymore. We could achieve a symptomatic cure,” explained co-study author Dr. Peter M. Glazer in a statement.

To achieve this success, the team used a novel form of gene-editing technology, which, unlike CRISPR, helps to avoid unintended genome alterations that could produce unforeseen outcomes.

There are several types of thalassemia, and according to the Mayo Clinic, individuals with mild forms of the condition do not need any type of treatment. However, those with a more severe form of the condition require regular blood transfusions. Possible consequences of thalassemia including iron overload, increased risk of infection, bone deformities, and heart problems.

The disease is hereditary, meaning that it is passed down from parents to children. Because of this, it is more common in individuals of Italian, Greek, Middle Eastern, Asian, and African Ancestry.

Source: Bahal R, McNeer NA, Quijano E, et al. In vivo correction of anaemia in b-thalassemic mice by gPNA-mediated gene editing with nanoparticle delivery. Nature Communication . 2016

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