What are the main symptoms or signs of Sickle cell disease: the world's leading genetic disease?

Common signs vary from person to person. The article above lists the symptoms to watch for, how they progress, and when they need medical attention.

When should you see a doctor for Sickle cell disease: the world's leading genetic disease?

See a doctor if symptoms last more than a few weeks, get worse quickly, stop you doing everyday things, or if you notice sudden pain, breathing trouble, fainting or bleeding.

Blood & Hematology

Sickle cell disease: the world's leading genetic disease

Painful crises, anemia, prevention of complications

Dr. Camille Roux

Hematologist

7 min read

Medical illustration of Sickle cell disease: the world's leading genetic disease

In simple terms

Hydroxyurea, transfusions, gene therapy: advances against sickle cell disease.

Abnormal hemoglobin

Sickle cell disease is caused by a mutation in the β-globin gene producing hemoglobin S. Red blood cells take on a sickle shape, obstruct small blood vessels, and are prematurely destroyed. More than 300,000 children are born with the disease each year.

Manifestations

Painful vaso-occlusive crises (bone, abdominal), chronic hemolytic anemia, susceptibility to infections (functional asplenia), acute chest syndrome, stroke, kidney and retinal damage.

Treatments

Hydroxyurea: increases fetal hemoglobin, reduces crises
Transfusions and exchange programs
Voxelotor, crizanlizumab: new molecules
Bone marrow transplant: only widely available curative treatment
Gene therapy (Casgevy, Lyfgenia): approved in 2023-2024, major prospects

Prevention

Enhanced vaccinations, pediatric antibiotic prophylaxis, hydration, systematic neonatal screening.

The words explained

Medical terms used above, in everyday language.

Chronic: A problem that lasts a long time, usually more than three months, and often comes back.
Acute: Something that starts suddenly and lasts a short time.
Antibiotic: A medicine that kills bacteria. It does not work against viruses like colds or flu.
Prevention: Steps taken before a problem starts, to make it less likely.
Screening: A check-up done before you feel ill, to catch a problem early.
Vaccine: A safe training session for your immune system, so it can fight a germ later.

When should you see a doctor?

Your symptoms last more than a few weeks or keep coming back.
They get worse quickly, or stop you doing everyday things.
You notice sudden pain, breathing trouble, fainting or bleeding — seek urgent care.
You already take medication and want to change anything about it.

This article explains general health information. It does not replace advice from your own doctor.

Frequently asked questions

What is Sickle cell disease: the world's leading genetic disease?: Hydroxyurea, transfusions, gene therapy: advances against sickle cell disease.
What are the main symptoms or signs of Sickle cell disease: the world's leading genetic disease?: Common signs vary from person to person. The article above lists the symptoms to watch for, how they progress, and when they need medical attention.
When should you see a doctor for Sickle cell disease: the world's leading genetic disease?: See a doctor if symptoms last more than a few weeks, get worse quickly, stop you doing everyday things, or if you notice sudden pain, breathing trouble, fainting or bleeding.

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