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Sickle Cell Disease (SCD)
Sickle cell disease is an autosomal recessive hemoglobinopathy that affects red blood cells, causing them to adopt a sickle or crescent shaped formation when under duress. This disease is caused by a single mutation to the hemoglobin beta (HBB) gene. When people have one HBB gene mutation, they have sickle cell trait. When a person inherits two HBB mutations from both of their parents, they have sickle cell disease. Sickle cell disease is diagnosed through the newborn screening program. There are numerous complications are associated with sickle cell disease including pain crises, acute chest syndrome, and stroke.
Sickle cell disease is the most common inherited blood disorder in the United States, commonly affecting people of African, Hispanic, and Mediterranean descent. There are different types of sickle cell disease with variable severity, including hemoglobin SS, SC, and S beta thalassemia.
Children with sickle cell disease are at increased risk for stroke and other neurological and neurodevelopmental disorders, including seizures, headache, cognitive delay, and ADHD.
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