Overview
Sickle cell disease is a genetic blood condition where the erythrocytes (another name for red blood cells) are affected. They may appear sickle-shaped or may also be described as crescent-shaped. One of red blood cells’ largest roles is to transfer oxygen throughout the body and when they become sickled, there can be blockages in blood flow and anemia can occur. This disease happens to be a genetic mutation more specifically affecting the hemoglobin, which is a protein in the blood.
Causes, Remedies, and Precautions
SDC for short, is caused by a genetic mutation that is passed down by the parents. The child will receive two mutated HBB genes, one from each parent in an autosomal recessive manner (meaning both parents need to be carriers for the gene for the disease to be passed down). The HBB gene plays a big role in the production of hemoglobin, by providing the instructions to make the hemoglobin. When the RBCs (red blood cells) are sickled, they lose the tendency to be round and flexible like a healthy RBC, but instead rigid or sticky, which is when the slowing of blood flow comes into play.
There are several variations of SCD, all dependent on what genes the offspring receives, but the symptoms remain the same for most variations. Sickle cell disease can appear in children as young as six months old. Symptoms can include anemia, pain episodes, swelling of the limbs, infections, delayed growth, and even vision problems, all of which can be troublesome in terms of everyday life and health.
The likelihood of receiving SCD is solely based on what genes the parents carry. To say certain people are prone to this disease could be slightly misleading, as it could be completely random if each parent is unaware that they carry the mutated HBB gene. Although studies have shown SCD to be prevalent in specific ethnic groups such as people of African, Hispanic, and Middle-Eastern descent, that is about as narrow as it gets in terms of who is prone to this disease. This can also raise the question of whether or not it is preventable. As you have read it is genetically inherited, and cannot be prevented, as your personalized DNA cannot be changed! However, a precaution to take is getting genetic testing done to ensure you do not carry the gene that can be passed down and turned into SCD.
SCD is curable through a medical procedure called a bone marrow or stem cell transplant. The upside is that this can get rid of SCD but, this treatment can be ridden with risk and complications. The marrow needs to be provided by a healthy donor, but only 18% of people with SCD have a compatible donor. People who do cure their SCD with or without a choice, also have access to other treatment options such as taking medications, blood transfusions, and gene therapy. For those with further interest in treating sickle cell disease read here under the “Management and Treatment” section!
Other Facts
Sickle cell disease is one of the most common inherited blood diseases and it affects many people all over the world, but it is not heavily prevalent in the United States. Oftentimes people who have sickle cell may also have ancestors from parts of the world where malaria was common.
The life expectancy for people living with SCD has improved quite a bit over the years, mainly due to better care and treatment advances. Now, many people can live into their 40s and 50s (on average). This can solely depend on how they manage symptoms and how much access they have to healthcare. Normally a hematologist (someone who studies the blood) is the doctor/specialist who would handle the diagnosis and treatment of SCD.
Interesting News
As of January 2025, a researcher has found that the brains of those with sickle cell disease are “older-looking”. Along with that, as of the end of 2023, two new gene therapies that are very transformative for SCD have been approved. People continue to inherit SCD and it remains unpreventable, but is treatable and treatment is making further advances!
Resources I used and where you can learn more
https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease#symptoms-and-causes
https://www.hematology.org/education/patients/anemia/sickle-cell-disease