Sickle cell anemia

Sickle cell disease is the umbrella term for a bunch of inherited blood disorders. The deadliest one is sickle cell anemia, which affects the red blood cells and is more prevalent in people of African, Middle Eastern, Caribbean, and Mediterranean descent. Having the disorder is potentially life-threatening, but thanks to gene editing technology, there is hope for people afflicted with sickle cell anemia.  

The Causes

Sickle cell anemia symptoms are caused by a gene defect. The affected gene is responsible for making hemoglobin, which transports oxygen around the body. Those with sickle cell anemia have red blood cells that are crescent-shaped, which don’t move well. If you show symptoms of sickle cell anemia, it means both of your parents carry the sickle cell gene. When only one parent has the gene and passes it on, your body will make normal and sickle cell hemoglobin, so you won’t show any symptoms. However, you can still pass the defective gene on and if you have a child with another carrier, that child will have sickle cell anemia. 

Symptoms

Pain is one of the most predominant symptoms of sickle cell anemia. The affected person will experience episodes of excruciating pain when malformed red blood cells clump together in blood vessels and cause blockages. These episodes are called sickle cell crises and can affect specific areas of the body, such as the legs, arms, pelvis, and spine. 

On average, sickle cell episodes occur once a year, but some people experience them every few weeks. The triggers for an episode are not always obvious, but stress, dehydration, and cold weather are thought to be factors. 

Another key symptom is anemia, hence the name. People with sickle cell anemia almost always have low hemoglobin levels in their blood. This may not be noticeable, but anemia can cause fatigue, dizziness, shortness of breath, and general weakness. The main treatment for low hemoglobin is a blood transfusion.

Babies and children with sickle cell anemia may reach growth milestones much later than normal and puberty might be delayed. This is because the shortage of red blood cells restricts the amount of oxygen and nutrients available as the child grows. 

Frequent infections are another symptom because the sickle cells cause damage to the spleen, which plays a vital role in the body’s immune response. 

Other symptoms include eye problems, swelling of the hands and feet, kidney and urinary problems, leg ulcers, gallstones, and high blood pressure. 

Treatment

People with the disorder are advised to avoid triggers, such as dehydration and exposure to cold weather. This will reduce the numbers of episodes they experience. There are medicines available that reduce the number of other blood cells, which can help with the pain. 

Genetic therapies are also being used to speed up the development of a cure. Scientists at labs like Hera Biolabs use cell line engineering techniques to edit the faulty gene.

The National Institutes of Health (NIH) is spending millions of dollars on sickle cell research. In time, it is hoped that many genetic conditions, including sickle cell disease, will eventually be completely eradicated.