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🗺️ Disease Atlas · Genetic, familial or congenital disease

sickle cell disease

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

🔔 Follow weekly
🧬1643genes / proteins with evidence
💊163drugs and clinical candidates
🧪12+recruiting trials worldwide
✅8approved
📈27phase 3
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Understand sickle cell disease

Genetic diseases · One changed letter in the DNA
🎓 Learn more

What it is

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but instead they are crescent, or sickle, shaped.

The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.

The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.

From MedlinePlus: Sickle Cell Disease (US National Library of Medicine) ↗

🧪 Genetic diseases: Genetic diseases are caused by a change in a gene (or a chromosome), often inherited from the parents - such as sickle cell disease, cystic fibrosis and Duchenne muscular dystrophy.

❓ Why it happens

  • A gene is a recipe for a protein. A change in its DNA letters can make the protein faulty or missing.
  • The change can be inherited from one or both parents, or happen for the first time in a child.

🫀 What it does to the body

  • In sickle cell disease, a change in the haemoglobin gene bends red blood cells into a sickle shape; they get stuck in small blood vessels, causing pain, anaemia and organ damage.

🧱 Why it is hard to cure

  • Fixing a gene safely in the right cells of the body is technically difficult.
  • Gene therapies are very expensive, and many genetic diseases are rare, with few patients for trials.

🚀 What research is trying now

  • Gene therapies that add a working copy of a gene.
  • CRISPR gene editing, now approved for sickle cell disease and beta thalassaemia.
  • RNA medicines that work around a faulty gene.

General information about genetic diseases, reviewed by people; it does not describe any one person. Below: the evidence for sickle cell disease itself.

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AI briefing

Where the science on sickle cell disease stands, from the evidence on this page

AI reads the targets, drugs, trials and papers below and writes where the science stands — every claim cited. It is shared with everyone who opens sickle cell disease.

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Top targets

Genes and proteins ranked by Open Targets evidence (0-1)
HBB hemoglobin subunit betaPROTACantibodyothersmall molecule🧊 AlphaFold structure ↗ 0.83
BCL11A BCL11 transcription factor APROTAC🧊 AlphaFold structure ↗ 0.64
RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2BPROTACsmall molecule🧊 AlphaFold structure ↗ 0.60
RRM2 ribonucleotide reductase regulatory subunit M2PROTACsmall molecule🧊 AlphaFold structure ↗ 0.58
RRM1 ribonucleotide reductase catalytic subunit M1PROTACsmall molecule🧊 AlphaFold structure ↗ 0.58
HBA2 hemoglobin subunit alpha 2PROTACantibodysmall molecule🧊 AlphaFold structure ↗ 0.57
HBA1 hemoglobin subunit alpha 1🧊 AlphaFold structure ↗ 0.57
SELP selectin PPROTACantibodysmall molecule🧊 AlphaFold structure ↗ 0.56
HBS1L HBS1 like translational GTPasePROTACsmall molecule🧊 AlphaFold structure ↗ 0.44
PKLR pyruvate kinase L/RPROTACsmall molecule🧊 AlphaFold structure ↗ 0.39
CSF3R colony stimulating factor 3 receptorPROTACantibodyother🧊 AlphaFold structure ↗ 0.37
TRHR thyrotropin releasing hormone receptorPROTACantibodyothersmall molecule🧊 AlphaFold structure ↗ 0.36
OPRM1 opioid receptor mu 1PROTACantibodyothersmall molecule🧊 AlphaFold structure ↗ 0.35
EDNRA endothelin receptor type APROTACantibodyothersmall molecule🧊 AlphaFold structure ↗ 0.34
EDNRB endothelin receptor type BPROTACantibodyothersmall molecule🧊 AlphaFold structure ↗ 0.34

Green labels: what the target is known to be druggable by. The score combines genetics, somatic mutations, drugs, expression and literature.

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Drugs and candidates

Every medicine linked to sickle cell disease, by how far it has got
Approved · 8
CetiedilApproved
CrizanlizumabP-selectin blockerApproved
DeferiproneApproved
Exagamglogene AutotemcelB-cell lymphoma/leukemia 11A gene editing negative modulatorApproved
GlutamineApproved
HydroxyureaRibonucleoside-diphosphate reductase RR1 inhibitorApproved
Show all 8
Lovotibeglogene AutotemcelHemoglobin beta chain exogenous geneApproved
VoxelotorHemoglobin HbA positive modulatorApproved
In phase 2 / 3 · 20
AcetylcysteinePhase 3
AlemtuzumabCAMPATH-1 antigen inhibitorPhase 3
ArgininePhase 3
Arginine HydrochloridePhase 3
BosentanEndothelin receptor, ET-A/ET-B antagonistPhase 3
DeferasiroxPhase 3
Show all 20
DexamethasoneGlucocorticoid receptor agonistPhase 3
EtavopivatPyruvate kinase isozymes R/L activatorPhase 3
FilgrastimGranulocyte colony stimulating factor receptor agonistPhase 3
FludarabinePhase 3
InclacumabP-selectin antagonistPhase 3
KetamineGlutamate [NMDA] receptor negative allosteric modulatorPhase 3
Ketamine HydrochlorideGlutamate [NMDA] receptor negative allosteric modulatorPhase 3
L-CitrullinePhase 3
LenograstimGranulocyte colony stimulating factor receptor agonistPhase 3
Magnesium SulfatePhase 3
MelphalanPhase 3
MethylphenidateDopamine transporter inhibitor; Norepinephrine transporter inhibitorPhase 3
MorphineMu opioid receptor agonistPhase 3
ParecoxibCyclooxygenase-2 inhibitorPhase 3
Early trials · 20
AbataceptT-lymphocyte activation antigen CD86 inhibitor; T-lymphocyte activation antigen CD80 inhi…Phase 1/2
AzithromycinBacterial 70S ribosome inhibitorPhase 1/2
BenserazideDOPA decarboxylase inhibitorPhase 1/2
BriquilimabStem cell growth factor receptor inhibitorPhase 1/2
CannabidiolCannabinoid CB1 receptor negative allosteric modulatorPhase 1/2
CannabinolPhase 1/2
Show all 20
ClotrimazoleCytochrome P450 51 inhibitorPhase 1/2
Darbepoetin AlfaErythropoietin receptor agonistPhase 1/2
Epoetin AlfaErythropoietin receptor agonistPhase 1/2
Epoetin BetaErythropoietin receptor agonistPhase 1/2
EptifibatideIntegrin alpha-IIb/beta-3 inhibitorPhase 1/2
IcosapentPhase 1/2
Imatinib MesylateTyrosine-protein kinase ABL inhibitor; Platelet-derived growth factor receptor beta inhib…Phase 1/2
OmidubicelPhase 1/2
Proguanil HydrochlorideDihydrofolate reductase inhibitorPhase 1/2
Rivipansel SodiumPhase 1/2
RuxolitinibTyrosine-protein kinase JAK1 inhibitor; Tyrosine-protein kinase JAK2 inhibitorPhase 1/2
SimvastatinHMG-CoA reductase inhibitorPhase 1/2
SiplizumabT-cell surface antigen CD2 inhibitorPhase 1/2
Zoledronic AcidFarnesyl diphosphate synthase inhibitorPhase 1/2
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