Sickle Cell Disease is Inherited, Not Acquired
People cannot "develop" or "get" sickle cell disease during their lifetime—it is exclusively an inherited genetic disorder present from birth. 1, 2
Genetic Inheritance Pattern
Sickle cell disease is an autosomal recessive genetic disorder that requires inheriting abnormal hemoglobin genes from both parents. 1
The disease results from a specific genetic mutation: a C to A substitution at codon 6 of the beta globin gene, replacing glutamic acid with valine, creating abnormal hemoglobin S (HbS). 2
Infants with SCD are healthy at birth and only develop symptoms early in infancy or childhood as fetal hemoglobin levels decline. 1
How People Have Sickle Cell Disease
You must be born with it—specifically inheriting the sickle hemoglobin gene from both parents (homozygous HbSS) or inheriting HbS from one parent and another abnormal hemoglobin variant from the other parent (compound heterozygous states like HbSC or HbS-β-thalassemia). 1
All 50 U.S. states, the District of Columbia, Puerto Rico, the U.S. Virgin Islands, and the U.S. military have newborn screening programs capable of making a definitive diagnosis of SCD at birth. 1
Approximately 300,000 infants are born annually worldwide with SCD, with most living in sub-Saharan Africa, India, the Mediterranean, and Middle East; approximately 100,000 individuals with SCD live in the U.S. 3
Critical Distinction: Sickle Cell Trait vs. Disease
The heterozygous carrier state (HbAS or sickle cell trait) is generally benign and represents having one normal hemoglobin gene and one sickle hemoglobin gene. 2, 4
Sickle cell trait is fundamentally different from sickle cell disease and is described as a "mostly benign condition" that only becomes clinically important at extremes of physiology such as severe sepsis, prolonged hypoxia, or severe dehydration. 4
The approximately 240,000 healthy carriers with sickle cell trait in the UK do not require the specialized management needed for patients with actual sickle cell disease. 4
Common Pitfall to Avoid
Do not confuse "being diagnosed with" sickle cell disease with "developing" it. While diagnosis may occur at various ages (particularly for children born outside countries with newborn screening programs), the genetic condition has been present since conception. 1 The disease is diagnosed through newborn screening programs where available, or when patients present with unexplained severe atraumatic pain or normocytic anemia. 3