Sickle cell disease is an inherited blood disorder in which red blood cells form a rigid, sickle shape that can block blood flow, causing pain, anemia, and a higher risk of serious infections. Newborn screening identifies affected babies before symptoms begin, so protective care can start in the first weeks of life.
What causes sickle cell disease
It is caused by changes in the HBB gene, which makes part of hemoglobin, the protein that carries oxygen in red blood cells. It is inherited in an autosomal recessive pattern; a child inherits an affected gene from each parent.
How newborn screening detects sickle cell disease
Sickle cell disease is screened for in all U.S. states as part of hemoglobin (hemoglobinopathy) screening on the dried blood spot. Screening also commonly identifies sickle cell trait (carriers). Out-of-range results are confirmed with follow-up testing.
How sickle cell disease is managed
While there is no universal cure, early and ongoing care greatly reduces complications: preventive antibiotics in infancy, vaccinations, hydroxyurea, and, increasingly, advanced therapies including gene therapy. Starting care early is why newborn screening matters.
Related conditions beyond the standard panel
Standard newborn screening covers the major hemoglobin disorders, but it does not screen for many other inherited blood conditions. Disorders such as G6PD deficiency, hereditary spherocytosis, and certain inherited clotting or bleeding disorders are generally not on state panels. Genomic screening can assess the genes linked to a broader set of blood conditions.
How genomic screening fits in
State screening catches sickle cell disease well. Fore Genomics’ at-home cheek-swab screen looks at the genes tied to more than 1,000 clinically actionable childhood conditions, including blood disorders beyond the standard panel, sequenced in CLIA-certified and CAP-accredited labs with genetic counselor support. See what we screen for or start screening.
Frequently asked questions
Is sickle cell disease on every state’s newborn screening panel?
Yes. It is screened for in all U.S. states as part of hemoglobin screening.
What is sickle cell trait?
Trait means a child carries one affected gene and usually has no symptoms, but can pass it on. Screening often identifies trait as well as disease.
Medically reviewed by Fore’s Clinical Team. This article is for general educational purposes and is not medical advice. Sources: HRSA Newborn Screening; CDC Sickle Cell Disease.