Sickle Cell Anaemia: Understanding a Genetic Blood Disorder

Lilly Scholz
Jan 27
3 min read

What is Sickle Cell Anaemia?

Sick cell anemia is an inherited blood disorder which affects the shape of red blood cells. Moreover, it is the most common and severe type of sickle cell disease, being a lifelong condition. Typically red blood cells tend to be round and flexible, enabling them to move through blood vessels easily and increase the efficiency of oxygen intake. However in sickle cell anemia, some red blood cells take the shape of a crescent or sickle. These sickle shaped cells also become rigid and sticky, which can immensely contribute to slower or blocked blood flow as they get stuck in travel. Moreover due to less haemoglobin being present, those with sickle cell anemia suffer from less oxygen intake, resulting in less respiration and energy being produced in return.

What are the causes?

Sickle cell disease occurs when you inherit a mutation in the HBB gene. This gene solely provides instructions for making haemoglobin, the iron-rich compound in red blood cells allowing them to carry oxygen from the lungs to the rest of the cells in your body. For a child to inherit sickle cell anemia, both parents must carry one copy of the sickle cell gene and pass both copies to the child. Additionally, sickle cell disease is most common in individuals of African, Mediterranean, Middle Eastern and Indian descent due to natural selection.

What are the symptoms?

Symptoms of sickle cell anemia usually appear around 6 months of age. However, it is important to note they vary from person to person and may change over time. Some symptoms may include the following:

Anemia:
- Typical red blood cells usually live for about 120 days before they need to be replaced, while sickle cells usually die in 10-20 days. This is known as anemia where the body is not able to provide enough oxygen due to a lack of red blood cells, causing fatigue for those with the condition.
Pain episodes:
- People with sickle cell anemia may experience periodic episodes of immense pain. This pain develops when the sickle cells block blood flow to areas of the body such as the chest, abdomen and joints.
Swelling of hands and feet:
- Due to the blocked circulation the sickle cells can cause, blood circulation is blocked in the hands and feet which causes them to swell.
Delayed growth or puberty:
- Red blood cells provide the body with enough oxygen and nutrients for respiration and growth. However, a shortage of healthy red blood cells can cause slow growth in babies and children, as well as a delay in puberty in teenagers.
Frequent infections:
- Sickle cells can damage the spleen, which severely increases the risk of developing infections. Therefore, babies and children with the condition will commonly receive vaccination and antibiotics to prevent potentially life-threatening infections.
Vision problems:
- Blood vessels that supply blood to the eyes can also become blocked with sickle cells, leading to damage in the retina which processes visual images.

How to Diagnose Sickle Cell Anaemia:

Sickle cell anemia is typically diagnosed through a blood test. These tests look for the abnormal haemoglobin that characterizes the disease. Early diagnosis such as newborn screening is essential for preventing severe complications, and is mandatory in many countries.

Treatments of Sickle Cell Anaemia:

While there is no universal cure for SCD, however various treatments are available to help manage symptoms and reduce complications experienced.

Regular check-ups with a health-care provider helps monitor health and symptoms experienced.
Routine vaccinations can lower the risks of infection.
Pain relief medications to relieve pain episodes when blood flow is blocked.
Blood transfusions can be done to treat severe anemia and prevent stroke by increasing the concentration of normal red blood cells.
Bone marrow transplant could be a potential cure for some patients, a procedure involving replacing bone marrow affected by sickle cell anemia with bone marrow from a donor. However, due to the risks associated with the procedure, a stem cell transplant is recommended for only those suffering from significant symptoms and complications.
Gene editing is a treatment that involves making changes to the DNA in a person’s stem cells, which is then returned to the body through the blood. Gene editing therapy is aimed at helping restore the cells’ abilities to make healthy red blood cells.