In sickle cell disease, red blood cells contort into a rigid, rod-like shape when oxygen is low, which prevents them from flowing smoothly through blood vessels. This can cause a shortage of oxygen in tissues, a condition called hypoxia, which can lead to pain, organ damage and a shortened life span.
Now, researchers have found that a molecule that regulates fetal hemoglobin may also help to alleviate the symptoms of sickle cell disease.
Fetal hemoglobin is a type of hemoglobin that is produced in the fetus and is essential for the fetus to get oxygen from the mother’s blood. After birth, fetal hemoglobin is replaced by adult hemoglobin.
Researchers have found that a molecule called BCL11A regulates the production of fetal hemoglobin. They have also found that people with sickle cell disease have lower levels of BCL11A.
The findings suggest that boosting levels of BCL11A may help to increase the production of fetal hemoglobin, which could in turn help to alleviate the symptoms of sickle cell disease.
The findings are preliminary and more research is needed to confirm the link between BCL11A and sickle cell disease. However, the findings offer new hope for the treatment of sickle cell disease.
When Jennifer Ma and her colleagues set out to study how erythropoietin, a hormone that regulates red blood cell production, affects sickle cell disease, they did not expect to find what they did.
Erythropoietin is produced in response to hypoxia, or low oxygen levels. In people with sickle cell disease, erythropoietin levels are known to be high, but it was not clear why.
Ma and her team found that erythropoietin production is increased in sickle cell disease not only in response to hypoxia, but also because of a defect in the way fetal hemoglobin is broken down. This link between erythropoietin and fetal hemoglobin had never been seen before.
The findings, published in the journal Nature Medicine, could have important implications for the treatment of sickle cell disease.
Fetal hemoglobin is present in high levels in newborns and gradually decreases as adults. Normally, as fetal hemoglobin levels fall, erythropoietin levels also decrease.
But in people with sickle cell disease, erythropoietin levels remain high, even as fetal hemoglobin levels fall. This leads to the production of too many red blood cells, which can make the blood thicker and more likely to form clots.
The new findings suggest that by targeting erythropoietin, it may be possible to reduce the number of red blood cells and improve the symptoms of sickle cell disease.
Ma and her team are now working on a clinical trial to test this approach. If successful, it could lead to a new treatment for sickle cell disease, a condition that affects millions of people worldwide.