Sickle Cell Disease
Treatments / Sickle Cell Disease
What is Sickle Cell Disease
Sickle cell disease (SCD) comprises a set of inherited disorders affecting red blood cells. These cells typically carry oxygen throughout the body, characterized by a round shape facilitating smooth passage through blood vessels.
However, individuals with SCD possess abnormal hemoglobin, leading to the deformation of red blood cells into rigid, sickle-like structures resembling the agricultural tool. These sickle cells have a shortened lifespan, resulting in a perpetual shortage of red blood cells. Moreover, their irregular shape causes blockages within narrow blood vessels, impeding blood flow.
Types of Sickle Cell Disease
Sickle cell disease encompasses various types determined by the genetic inheritance from parents.
Hemoglobin SS (HbSS): This severe form affects approximately 65% of individuals with SCD. It arises when both parents pass on a gene encoding hemoglobin S, resulting in predominantly abnormal hemoglobin and chronic anemia.
Hemoglobin SC (HbSC): A milder to moderately severe form, impacting around 25% of SCD cases. Inheritance involves one hemoglobin S gene from one parent and another abnormal type, hemoglobin C, from the other.
Hemoglobin (HbS) beta-thalassemia: Individuals inherit a hemoglobin S gene from one parent and beta thalassemia, another abnormal type, from the other. Subtypes include:
- HbS beta +: Affecting roughly 8% of SCD cases, this subtype tends to be milder.
- HbS beta 0: Affecting about 2% of SCD cases, this subtype is more severe, akin to hemoglobin SS disease.
Additionally, there are rarer forms such as hemoglobin SD (HbSD), hemoglobin SE (HbSE), and hemoglobin SO (HbSO). Individuals with these forms inherit one hemoglobin S gene and another encoding for a different abnormal gene (D, E, or O).
What are the Symptoms of Sickle cell Disease?
Symptoms of sickle cell disease typically emerge around 5 to 6 months of age, though they can vary in severity from person to person. These symptoms may include:
- Frequent episodes of pain.
- Anemia, leading to fatigue, paleness, and weakness.
- Jaundice, characterized by yellowing of the skin and the whites of the eyes.
- Painful swelling of the hands and feet.
What is the Treatment for Sickle Cell Disease?
Treatment for sickle cell disease encompasses various approaches, including medications, transfusions, stem cell transplants, and ongoing research into gene therapy. Here’s a revised version:
Treatment for sickle cell disease incorporates a range of strategies, from medications to advanced therapies:
Medications:
- Hydroxyurea: Known to mitigate or prevent various SCD complications like pain crises, acute chest syndrome, and severe anemia.
- Antibiotics: Newborns with severe SCD are often prescribed antibiotics twice daily until the age of 5 to stave off infections.
- Voxelotor: This medication helps prevent the sickling and clumping together of red blood cells, improving blood flow and reducing the risk of anemia.
- Crizanlizumab: It prevents sickled red blood cells from adhering to blood vessel walls, enhancing blood flow and alleviating inflammation and pain crises.
- L-glutamine: Acts as a pain reliever, reducing the frequency of pain crises. Other options include nonsteroidal anti-inflammatory drugs (NSAIDs) and opiates.
Transfusions:
- Acute transfusions: Used to manage complications causing severe anemia or crises such as strokes, acute chest syndrome, or organ failure.
- Red blood cell transfusions
Stem Cell Transplant:
- Bone marrow transplant is curative for SCD. It requires a compatible donor, typically a sibling, though ongoing research explores alternative matches like birthing parents or half-matched siblings. Risks and benefits are discussed with healthcare providers.
Gene Therapy:
- Under study for SCD treatment, gene therapy involves correcting or replacing abnormal hemoglobin genes in a person’s stem cells. Though still in early stages, promising results suggest future potential for routine use in treating SCD.