🩸 Hematological Disorder

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.

ICD-10: D57 Orphanet: ORPHA232 OMIM: 603903
👥 1 in 365 African American births; 1 in 16,300 Hispanic American births Prevalence
🔬 187 Active Trials

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

MEDICATION FDA Approved

Hydroxyurea

HIGHLY EFFECTIVE Approved 1998
MEDICATION FDA Approved

Voxelotor (Oxbryta)

HIGHLY EFFECTIVE Approved 2019
MEDICATION FDA Approved

Crizanlizumab (Adakveo)

MODERATELY EFFECTIVE Approved 2019
MEDICATION FDA Approved

L-glutamine (Endari)

MODERATELY EFFECTIVE Approved 2017
GENE THERAPY FDA Approved

Casgevy (exagamglogene autotemcel)

CURATIVE Approved 2023
GENE THERAPY FDA Approved

Lyfgenia (lovotibeglogene autotemcel)

CURATIVE Approved 2023
TRANSPLANT FDA Approved

Bone marrow/stem cell transplant

CURATIVE
SUPPORTIVE FDA Approved

Blood transfusions

HIGHLY EFFECTIVE

Diagnosis

  • 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

2023

First CRISPR gene therapy approved

FDA approves Casgevy (exa-cel), the first CRISPR-based therapy, offering potential cure for sickle cell disease.

2023

Second gene therapy approved

Lyfgenia (lovo-cel) approved as alternative gene therapy approach using lentiviral vector.

2024

Real-world gene therapy outcomes

Early real-world data shows sustained disease resolution in patients treated with gene therapy.