Sickle Cell Anemia

What is Sickle Cell Anemia?

Sickle cell anemia is an inherited disorder that affects the shape of our red blood cells (RBC). Our red blood cells carry oxygen from our lungs to other parts of our body. Our RBCs are usually round, which makes it easier to move around. However, in sickle cell anemia, the round shape of our blood cells turns into a crescent moon shape. These sickle cells become sticky and hard, which makes it much harder for them to move around.

Causes

Sickle cell anemia is caused by a change in a gene that tells the body to make hemoglobin. Hemoglobin is a protein that produces iron in our red blood cells. For a child to have sickle cell anemia, both the mom and dad must have 1 copy of the sickle cell gene/sickle cell trait. If only one parent carries the sickle cell gene, then the child becomes a carrier. This means that the child could possibly pass the gene on to their children. Sickle cell anemia is most common in people of African and Middle Eastern descent.

Symptoms and Complications

Symptoms of sickle cell anemia can start appearing as soon as 6 months of age. Symptoms include anemia, episodes of pain, swelling of hands and feet, sensitivity to infections/frequent infections, delayed puberty growth, and vision issues. Sickle Cell Anemia can lead to many other complications such as:

Stroke- by blocking blood flow to the brain, causing numbness in the limbs and possibly seizures.

Acute chest syndrome- by blocking blood cells into the lungs, causing chest pain and breathing difficulty.

Pulmonary hypertension- by the high buildup of blood vessels in the lungs, which causes high blood pressure. This hypertension can result in death.

Organ damage- by blocking blood flow to organs can result in a loss of oxygen to those organs in the body. With the combination of oxygen-lacking sickle blood cells and the blockage to said organs, it can cause nerve and organ damage.

Splenic sequestration- many sickle cells can get trapped inside the spleen, causing the spleen to grow. This enlargement can cause abdominal pain and can be life-threatening. It is recommended for parents of sickle cell patients to regularly check their child’s spleen and be on the look out for spleen expansion.

Blindness- by blocking blood vessels that support the eyes. This blockage over time can lead to blindness.

Leg ulcers- sickle cell disease can cause open sores in the legs. These sores are often painful.

Gallstones- Because of the excess breakdown of red blood cells, there is an increase in bilirubin, which is a type of compound that produces bile (throw up). If there is too much bilirubin, sickle cell patients often become diagnoses with gallstones.

and Pregnancy complications- by increasing the chances of the mother developing high blood pressure and blood clots, it can increase the risk of having a miscarriage, or even a premature birth.

Treatments

One of the most common treatments for sickle cell anemia is hydroxyurea. Taking this type of medication reduces pain and the need for blood transfusions, but it can also increase the risk of infections in patients. Another possible treatment option is stem cell or bone marrow transplants. Even though these are considered the only permanent cure for this type of anemia, it is not very common because of the many risks involved in the process. The main risk of getting a stem cell transplant is called “Graft versus Host Disease”. This occurs when the new cells that were transplanted begin to attack the other cells in the body. This treatment is also considered the last option in patients.

Sources

https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc20355876

https://www.nhs.uk/conditions/sickle-celldisease/treatment/#:~:text=Stem%20cell%20or%20bone%20marrow%20transplants%20 are%20the%20only%20cure,different%20types%20of%20blood%20cells.