What is the difference between sickle cell trait and sickle cell disease?

Sickle cell trait means a person carries one copy of the sickle gene and usually has no symptoms. Sickle cell disease requires two copies and causes the full range of symptoms and complications.

Can sickle cell disease be cured?

Bone marrow transplant can cure sickle cell disease, but it carries significant risks and requires a matched donor. Gene therapy is an emerging treatment that may offer a cure in the future.

Why does sickle cell disease cause pain crises?

Sickle-shaped red blood cells can clump together and block small blood vessels, cutting off oxygen supply to tissues. This vaso-occlusive process triggers intense pain episodes in the bones, chest, and abdomen.

GeneticICD-10: D57Affects approximately 100,000 people in the US, predominantly African Americans

Sickle Cell Disease

Also known as: Sickle cell anemia, SCD

Sickle cell disease is a group of inherited blood disorders in which red blood cells become misshapen into a crescent or sickle shape, causing them to break down prematurely and block blood flow. This leads to episodes of severe pain, organ damage, and increased susceptibility to infections. While there is no widely available cure, treatments have significantly improved life expectancy and quality of life.

Symptoms

Episodes of severe pain called sickle cell crises

Chronic anemia causing fatigue and weakness

Swelling of hands and feet, especially in young children

Frequent infections

Delayed growth in children

Vision problems due to retinal damage

Jaundice or yellowing of the skin and eyes

Shortness of breath

Causes

Inherited mutation in the hemoglobin gene (HBB) causing abnormal hemoglobin S
Autosomal recessive inheritance requiring two copies of the sickle gene
Red blood cells deforming under low oxygen conditions

Risk Factors

Both parents carrying the sickle cell trait
African, Mediterranean, Middle Eastern, or South Asian descent
Family history of sickle cell disease or trait

Diagnosis

Newborn screening with hemoglobin electrophoresis
Complete blood count revealing anemia
Sickle cell solubility test
Genetic testing for HBB gene mutations
Prenatal testing through amniocentesis or chorionic villus sampling

Treatment

Hydroxyurea to reduce frequency of pain crises
Pain management during sickle cell crises
Blood transfusions for severe anemia or stroke prevention
Bone marrow or stem cell transplant as a potential cure
Gene therapy showing promising results in clinical trials
Preventive antibiotics and vaccinations against infections

Prevention

Genetic counseling for carriers of sickle cell trait
Newborn screening for early detection and intervention
Prenatal testing for at-risk pregnancies

When to See a Doctor

Severe pain episodes that do not respond to home treatment
Fever in a child with sickle cell disease
Sudden vision changes or severe headache
Signs of stroke such as weakness or difficulty speaking

Frequently Asked Questions

Related Conditions

Thalassemia

Genetic

Anemia

Metabolic

Stroke

Cardiovascular

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