Diamond Blackfan Anemia
Diamond Blackfan anemia (DBA) is a rare form of anemia caused by a genetic mutation in the bone marrow. This mutation results in a reduced production of red blood cells. Red blood cells are responsible for distributing oxygen throughout the body. Therefore, a reduced number of blood cells means adequate oxygen is not circulating to vital organs, which causes numerous complications for patients.
Approximately 1.6 billion individuals across the world are diagnosed with some form of anemia. Most patients with DBA are diagnosed between the ages of 0 and 1. Symptoms include fast heartbeat, heart murmurs, irritability, feelings of weakness, sleepiness, and pale skin among other issues.
Current Treatment for DBA
There are two typical treatments for DBA. The first is focused on replenishing the red blood cells in the body. The second focuses on helping the body produce a normal amount of red blood cells on its own. Corticosteroids are one of the therapies often used for this form of treatment.
Stem cell treatment has also been considered as a cure for DBA but it’s highly controversial because it is a risky procedure. It is especially risky if the stem cell donor is not related to the patient.
New Funding for Research
Lionel Blanc, a researcher at the Feinstein Institute for Medical Research has developed a theory which he believes could lead to a more effective treatment for DBA. It involves combining two prescription drugs: dexamethasone and pomalidomide.
His investigation will first examine how each drug acts during the formation of red blood cells. Then he will study the effect of combining these drugs. His hypothesis is that together, the drugs will produce fewer side effects for patients because the act of combining them would allow for each to be taken in a lower dose. Ultimately, the toxicity of the drugs would be lowered by taking each in less volume.
The greatest potential impact of this treatment regime for DBA patients is an improved quality of life thanks to the reduction in side effects. We can only hope that Blanc’s hypothesis is correct. As he is a well-respected leader in the field, many are excited by this new project.
Blanc’s investigation would not be possible without funding. Thankfully, the National Heart, Lung, And Blood Institute within the National Institutes of Health has just offered him a five-year grant of 2.5 million dollars for this study.
Blanc’s study will not be completed independently. He will be assisted by researchers at Stanford University, the Broad Institute, the Diamond Blackfan Anemia Registry, and other researchers at the Feinstein Institute.
You can read more about this new potential combination treatment for Diamond Blackfan anemia here.
