What Is Sickle Cell Disease?

Many people around the world are living with Sickle Cell Disease. Name after the abnormal, sickle-shaped red blood cells that are found in those with the disease. If you are unfamiliar with the disease, we are breaking down the basics of Sickle Cell Disease in this article. 

What Is Sickle Cell Disease?

Sickle Cell Disease is a group of disorders that affects red blood cells. Red blood cells are vital in transporting oxygen in our bodies. Someone with Sickle Cell Disease may have varying amounts of crescent shaped red blood cells, instead of the typical round red blood cells. The sickle shape can cause certain problems as the cells circulate throughout the body. 

There are multiple types of Sickle Cell and each one manifests differently in patients. HbSS, also called Sickle Cell Anemia, is the most severe type and happens when both parents have the Sickle Cell gene. HbSC is a less severe type where only one parent has the Sickle Cell gene, but the other parent has a different abnormal blood cell gene. 

In the mildest form, someone inherits a Sickle Cell gene from one parent and a normal gene from the other. That is what is known as Sickle Cell Trait. People who are living with Sickle Cell trait may show no symptoms of Sickle Cell Disease and live a life free of complications, however, they can pass the trait on to their children. 

What Causes Sickle Cell Disease?

Sickle Cell Disease is a genetic disorder and is inherited. Sickle Cell Disease is a global disease and is caused by a genetic mutation. It appears to be most prevalent among people descended from populations in Africa, India, the Mediterranean countries, and Central and South America. 

Because Sickle Cell Disease is an inherited disease, you cannot contract it after birth. Both parents must have possessed the genetic mutation. Since it is a recessive gene, it is possible that neither parent will have had symptoms of the condition and may not know that they are a carrier. Since this is a gene mutation that can be found on routine screening at most hospitals, it is important to be tested, along with your partner, before having children.

What Are The Symptoms of Sickle Cell Disease?

Sickle Cell Disease is usually diagnosed in childhood. Often, the first symptom is swelling in the hands and feet, accompanied by a fever. Anemia, infections, and pain are all common symptoms. Sometimes, the crescent cells can become stuck in the smaller blood vessels which can be very painful and stop those tissues or organs from receiving oxygen. The longer tissue goes without oxygen, the more at risk they are at for damage.

In some cases, people with sickle cell can show signs of jaundice, which includes yellowing of skin and eyes. The crescent shape causes the red blood cells to die faster than normal which is what causes the anemia. Anemia usually manifests as tiredness and trouble breathing. Like all diseases, the symptoms range in severity depending on the individual. 

What Are The Risks?

Sickle Cell Disease can lead to repeated pain crises, anemia, strokes and puts people at risk for a broad range of infections.

The most common risk is painful episodes or crises. Doctors often advise patients to drink lots of fluids, avoid high altitudes, and take whatever medicine regime they’ve been prescribed to prevent these episodes. When they occur, over the counter pain medications are often enough to treat the episodes. 

While anemia is not usually a severe symptom, in and of itself, it can slow a child’s growth and possibly delay puberty when left without medical attention. In severe cases, a blood transfusion might be necessary. 

Additionally, infections are a more pronounced risk for people with Sickle Cell Disease. Pneumonia can be potentially fatal in babies and small children. Extra precautions like vaccines and increased hygiene are necessary to prevent such infections. 

Is There A Cure?

At present, the only known cure is a transplant of bone marrow. The bone marrow is where the blood cells are made, so the transplant trades the mutated genetics of the sick person’s marrow for the healthy marrow from the donor. Like all transplants, risks are involved and can result in serious side effects. Because of those risks, bone marrow transplants are rare and mostly given to children. 

However, there are multiple kinds of treatments offered which are less risky. One such treatment, Hydroxyurea, can help decrease the likelihood of complications in patients with Sickle Cell Disease by decreasing the number of red cells that are sickling at any one time. Sometimes, patients need transfusions for more red blood cells but this is only a temporary solution because the cells do not last that long and the patient’s own cells will continue to sickle. Although these patients are typically anemic, it is not due to iron deficiency so supplemental iron will not help them. 

For more information the Sickle Cell Disease Association of America is a great resource.

REFERENCES

1.    US National Library of Medicine https://ghr.nlm.nih.gov/condition/sickle-cell-disease

2.    Center For Disease Control https://www.cdc.gov/ncbddd/sicklecell/facts.html