Sickle Cell Disease
Also known as: SCD, Sickle Cell Anemia, Drepanocytosis
Sickle cell disease is a group of inherited red blood cell disorders in which red blood cells become hard and sticky and look like a C-shaped farm tool called a sickle. These cells die early, causing a constant shortage of red blood cells and can block blood flow causing severe pain and other complications.
Sickle cell disease makes red blood cells change shape from round to curved like a banana. These oddly-shaped cells get stuck in blood vessels and don't carry oxygen well, causing pain and other problems. New gene therapies can now fix the problem at its source.
Signs & Symptoms
- Episodes of severe pain (vaso-occlusive crises)
- Chronic anemia
- Frequent infections
- Delayed growth
- Vision problems
- Swelling of hands and feet
- Fatigue
- Jaundice
- Stroke
- Acute chest syndrome
Treatment Options
Hydroxyurea
HIGHLY EFFECTIVEApproved 1998Voxelotor (Oxbryta)
HIGHLY EFFECTIVEApproved 2019Crizanlizumab (Adakveo)
MODERATELY EFFECTIVEApproved 2019L-glutamine (Endari)
MODERATELY EFFECTIVEApproved 2017Casgevy (exagamglogene autotemcel)
CURATIVEApproved 2023Lyfgenia (lovotibeglogene autotemcel)
CURATIVEApproved 2023Bone marrow/stem cell transplant
CURATIVEBlood transfusions
HIGHLY EFFECTIVEDiagnosis
- Newborn screening (hemoglobin electrophoresis)
- Complete blood count
- Hemoglobin solubility test
- Peripheral blood smear
- Genetic testing
- Prenatal testing
History
Sickle cell disease was the first molecular disease characterized, with Linus Pauling identifying the abnormal hemoglobin in 1949. The specific mutation (Glu6Val) was identified in 1956. The 2023 approval of CRISPR-based Casgevy marked the first CRISPR gene therapy approved in the US, representing a historic milestone in medicine.
Recent Breakthroughs
First CRISPR gene therapy approved
FDA approves Casgevy (exa-cel), the first CRISPR-based therapy, offering potential cure for sickle cell disease.
Second gene therapy approved
Lyfgenia (lovo-cel) approved as alternative gene therapy approach using lentiviral vector.
Real-world gene therapy outcomes
Early real-world data shows sustained disease resolution in patients treated with gene therapy.