Sickle cell disease (SCD) is an inherited blood disorder caused by a mutation in the gene that tells the body how to make hemoglobin . Hemoglobin is the protein in red blood cells that carries oxygen throughout the body . In SCD, the abnormal hemoglobin causes red blood cells to become rigid, sticky, and sickle-shaped .
Symptoms and Complications:
- Pain crises: Sickle-shaped cells can block blood flow, causing severe pain .
- Anemia: Sickle cells die faster than normal red blood cells, leading to a shortage of red blood cells .
- Organ damage: Blocked blood flow can damage organs, including the heart, lungs, and kidneys .
- Increased risk of infection: Sickle cell disease can damage the spleen, which helps fight infection .
Causes:
- SCD is caused by a genetic mutation in the HBB gene . It is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to have the disease .
Treatments and Recent Advances:
- Bone marrow transplant: A modified bone marrow transplant procedure has been shown to cure SCD . A study reported in February 2025 showed that over 97% of adults with severe SCD who underwent the procedure no longer needed immunosuppressive therapy after one year, and the two-year survival rate was 95% .
- Gene therapy: CRISPR-based gene therapy, such as Casgevy, has been approved to treat SCD and beta-thalassemia . This involves editing the patient’s hematopoietic stem cells to increase the production of fetal hemoglobin, which prevents the sickling of red blood cells .
- Haploidentical transplant: This protocol requires only a half HLA match from a related family member and utilizes the immunosuppressive drug cyclophosphamide post-transplant to prevent graft-versus-host disease .
- Potential new genetic target: Scientists have identified a potential new genetic target for sickle cell disease treatment .
Prevalence:
- SCD affects approximately 100,000 individuals in the United States and millions worldwide . It is more common among Black people .
Summary:
Sickle cell disease is an inherited blood disorder with treatments ranging from bone marrow transplants to gene therapy. Recent research continues to provide new and improved therapies to treat this disease .for health & disease click www.eminentnews.com
