Sickle Cell Disease
Sickle Cell Disease
Sickle cell disease is an inherited condition that is caused by the mutation of the red blood cells. It manifests when the sickle cell trait/gene is passed on from both parents. It affects how oxygen is carried to the organs around the body, due to “sickling” as a result of the short lifespan of the healthy red blood cells in the bone marrow.
Sickling occurs when the red blood cells break down into a sickle shape. The broken down sickle-shaped red blood cells get stuck in tiny blood vessels, causing slow or blocked blood flow and oxygen; resulting in complications such as anemia, pain crisis, and infections. Although sickle cell disorder is a serious and lifelong condition, careful long-term management can help alleviate many of the complications associated with it.
Sickle cell disease is not common and rare in some regions and countries like Australia, hence, many people are not aware of it.
Types of SCD
People who have this form of SCD inherit two sickle cell genes (“S”), one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of the disease.
People who have this form of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C”. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form of SCD. Infographic: 5 Facts You Should Know About Sickle Cell Disease
HbS beta thalassemia
People who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: “0” and “+”. Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.
Cause of SCD
SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent.
SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth.
Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.
You can contact Australian Sickle Cell Advocacy (ASCA) to learn more about Sickle Cell Disease and how to get tested.
Complications and Treatments
People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe.
There is no single best treatment for all people with SCD. Treatment options are different for each person depending on the symptoms.
The only cure for SCD is bone marrow or stem cell transplant.
Bone marrow is a soft, fatty tissue inside the center of the bones where blood cells are made. A bone marrow or stem cell transplant is a procedure that takes healthy cells that form blood from one person—the donor—and puts them into someone whose bone marrow is not working properly.
Bone marrow or stem cell transplants are very risky, and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. Bone marrow or stem cell transplants are used only in cases of severe SCD for children who have minimal organ damage from the disease.