What is Sickle Cell Disease?

Under the Skin

Blood is made up of four main parts: red blood cells, white blood cells, plasma, and platelets. Plasma is the part of the blood that everything else is suspended in, and it serves to take nutrients, salts, enzymes, and proteins to different parts of the body. Platelets begin to clot blood if the body is harmed in some way, and white blood cells fight off disease and infection. Red blood cells, on the other hand, carry oxygen throughout the body, and their perfect circular shape allows them to easily flow through the arteries.

However, sometimes those circular shapes can become sickle-or crescent-like, and when this happens, it becomes harder for oxygen to be transported to different parts of the body, and this can result in extreme amounts of pain and life-threatening consequences. This is called sickle cell disease, and it is a rare, hereditary illness that can cause chronic pain for the entirety of a person’s life. Additionally, red blood cells in this sickle shape disintegrate faster than normal ones. Circular red blood cells last up to 120 days before the body begins to break them down and produce new ones, but sickle cells can only last up to about 20 days. This leads to low red blood cell levels, as well as iron deficiency, and can lead to anemia, which is why the disease is sometimes referred to as sickle cell anemia.

Origins of Sickle Cell Disease

Sickle cell disease was first diagnosed in the 1850s, but research wasn’t properly conducted until the 1900s when the abnormal shape of the red blood cells was discovered and the distinction was made between sickle cell trait and actually having the illness. It was found that the disease likely originated in Africa or the Middle East. Today, over seventy-five percent of cases are in Africa alone, with the other quarter largely in India and the Middle East. This makes the disease and the trait more common in African-American populations, but the trait also results in a unique trait: a type of malarial resistance. Those with sickle cell disease are more susceptible to malaria, but those with just the trait, the heterozygous carrier, are actually somewhat protected against the deadly disease. Malaria infects the red blood cells and makes the defective cells, inhabited by the sickle cell trait, die off early, making it more difficult for the deadly disease to spread and reproduce inside the body. This means that in countries faced with malaria epidemics, being infected with the sickle cell trait could increase the chances of survival.

Life With Sickle Cell Disease

Sickle cell disease is an inherited disease, which means a person can only have it if one or more of their parents has it, but it is also inherited in an autosomal recessive way. This makes the disease even rarer, as this means that a person must be homozygous for the trait; they must receive one recessive allele from each parent, not one dominant and one recessive. Sickle cell disease impacts many areas of a person’s life, and it usually stays with them forever. Patients are usually asked to describe the chronic pain they have on a 1-10 scale, with 8-10 typically
signifying that the patient is going through a sickle cell crisis. The time between crises varies from person to person and can be as frequent as monthly or as infrequently as yearly, and the actual crisis itself can last from hours to days. Besides the pain, humans with sickle cell disease have to worry about even more serious and long-term consequences from the disease; acute chest syndrome, strokes, transplants of bone marrow and other bones in the body, and stress about starting a family, which often isn’t recommended for a person who has the trait.

Treatment and Possible Cures

Although there currently is no definitive, universal cure for sickle cell disease, doctors and researchers have been working to discover something that could fix the shape of the red blood cells and rid the body of the illness. The transplant of bone marrow, the part of the body that produces red blood cells, has been successful in certain patients, but not in others. Umbilical cord transplants, which would be done if a person with sickle cell disease wished to have a baby, have also been researched, but there aren’t a lot of people who are able to donate and the procedure has been largely unsuccessful. Various kinds of blood transfusions and gene therapies have also been discussed. In the meantime, doctors try to ease the pain and symptoms of sickle cell disease with pain medications, penicillin, and hydroxyurea, as well as regular check-ups to see how the disease is progressing, and how it could respond to new treatments.