What it is
Sickle cell disease is an inherited blood disorder caused by a single change in the HBB gene, which makes an abnormal form of haemoglobin. Red cells become stiff and sickle-shaped, leading to ongoing red-cell breakdown and episodes where blood flow is blocked.
Signs and symptoms
Autosomal recessive inheritance
Sickle cell disease is inherited recessively: it occurs when a child inherits a sickle HBB gene from each parent, or a sickle gene combined with another abnormal HBB gene.
Hemolytic anemia
Fragile sickled red cells are broken down faster than normal, giving a chronic haemolytic anaemia with fatigue and jaundice.
Vaso-occlusive crisis
A vaso-occlusive crisis is an episode where sickled cells block small blood vessels, causing sudden severe pain. These crises are the most frequent complication of the disease.
Dactylitis
Dactylitis, painful swelling of the hands and feet, is often one of the earliest signs in young children.
Acute chest syndrome
Acute chest syndrome, a serious lung complication with chest pain, fever, and breathing difficulty, is a leading cause of hospitalisation and harm.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Hydroxyurea
Hydroxyurea is a medicine that raises protective fetal haemoglobin and reduces painful crises, hospitalisations, and mortality in sickle cell disease.
Used to help with: Sickle cell anemia.
“Hydroxyurea reduces morbidity and mortality in children with sickle cell anemia (SCA).”
Triggers to avoid
In this condition, certain drugs, foods, or other exposures can set off an acute episode in people who are affected, even when they are otherwise well. The research mapped here describes the agents below. This is information, not a recommendation: what to avoid and what is safe for any individual is a conversation for their own care team.
Hypoxia
Low oxygen (hypoxia), such as at high altitude, can precipitate a vaso-occlusive crisis and is something to be aware of and avoid where possible.
Reported in the research mapped here as able to provoke: Vaso-occlusive crisis in people with this condition.
“There is still considerable controversy over the site (arteriolar, capillary, or venular) of vaso-occlusion, the type of sickle cell (reversibly sickled or irreversibly sickled) that is primarily involved, and the relative importance of extra-erythrocytic precipitating factors such as stasis, hypoxia, hyperosmolality, acidosis, alteration in temperature, acute-phase rise in plasma proteins and leukocytes, prothrombotic changes in coagulation factors and platelets, and adhesion of blood cells to vascular endothelium (Figure 2).”
Cold exposure
Changes in temperature, particularly cold exposure, can trigger a vaso-occlusive crisis; keeping warm is a common preventive measure.
Reported in the research mapped here as able to provoke: Vaso-occlusive crisis in people with this condition.
“There is still considerable controversy over the site (arteriolar, capillary, or venular) of vaso-occlusion, the type of sickle cell (reversibly sickled or irreversibly sickled) that is primarily involved, and the relative importance of extra-erythrocytic precipitating factors such as stasis, hypoxia, hyperosmolality, acidosis, alteration in temperature, acute-phase rise in plasma proteins and leukocytes, prothrombotic changes in coagulation factors and platelets, and adhesion of blood cells to vascular endothelium (Figure 2).”
Dehydration
Dehydration (reflected as hyperosmolality) can precipitate a crisis, so staying well hydrated is an important everyday measure.
Reported in the research mapped here as able to provoke: Vaso-occlusive crisis in people with this condition.
“There is still considerable controversy over the site (arteriolar, capillary, or venular) of vaso-occlusion, the type of sickle cell (reversibly sickled or irreversibly sickled) that is primarily involved, and the relative importance of extra-erythrocytic precipitating factors such as stasis, hypoxia, hyperosmolality, acidosis, alteration in temperature, acute-phase rise in plasma proteins and leukocytes, prothrombotic changes in coagulation factors and platelets, and adhesion of blood cells to vascular endothelium (Figure 2).”
Turn this into questions for your doctor
The hardest part is often knowing what to ask. PatientLead Health helps families turn what is on this page into the right questions for their care team.
How to read the evidence labels
Where this comes from
This guide is built from 4 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.