Sickle beta thalassemia (S/ßTh) is a rare genetic condition. S/ßTh affects the number or shape of the red blood cells in the body. Normally, the red blood cells are round and donut-shaped. They bring the oxygen we breathe from our lungs to different parts of our body. Those with S/ßTh make some red blood cells that are crescent or sickle shaped rather than a round, donut shape. These sickle shaped cells do not last as long as normal red blood cells and die off. This can lead to anemia (a low number of red blood cells). The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood. If red blood cells are not able to move through the blood vessels, parts of the body cannot get enough oxygen. Therefore, it is very important for our bodies to have an adequate number of red blood cells.
Those affected by S/ßTh may develop signs a couple of months after birth. The symptoms of this condition are similar to that of sickle cell disease, but may be less severe. These include pale skin, sleeping longer or more often, tiredness, difficulty breathing, pain or swelling in the hands or feet, and cold hands or feet. If untreated, this disorder can lead to organ failure and death. Many of these complications can be prevented with early detection and lifelong management with appropriate medications, fluids, and blood transfusions. Many babies are screened for S/ßTh at birth so that treatment can begin early, but the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. . S/ßTh is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Also talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.