source: RareDiseaseAdvisor

year: 2023

Sickle cell disease (SCD) is an inherited blood disorder in which oxygen transport by the red blood cells (RBCs) is compromised. SCD is characterized by the presence of abnormal, sickle-shaped RBCs.These can interact with and adhere to other cells, forming clots that block normal blood flow within blood vessels.¹ Obstruction by the sickle-shaped RBCs increases the risk for infection and stroke; it also causes painful crises that can last for days or weeks, or long term.^1,2 The lifespan of sickled RBCs is shorter than that of normal RBCs, so that anemia commonly develops in patients with SCD.²

Symptoms of SCD can begin in children as young as 4 months of age; therefore, newborn screening is important for an early diagnosis.^3,4 The disease requires lifelong treatment, and patients benefit from the care of a multidisciplinary team of healthcare professionals.

Specialists Involved in the Management of Sickle Cell Disease

Regular medical check-ups are important to prevent serious complications of SCD. Babies with SCD should have follow-up visits every 2 to 3 months until they reach 1 year of age. Children between 1 and 2 years old should have medical appointments at least every 3 months. Children older than 2 years and adults should have annual appointments.⁵

The medical team following a patient with SCD typically includes a diverse group of specialists, including a primary care physician, hematologist, pulmonologist, cardiologist, nephrologist, ophthalmologist, psychologist, and social worker.

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