Sickle cell disease

摘要: Abstract Sickle cell disease, a chronic hemolytic anemia secondary to single-gene mutation leading hemoglobin which polymerizes on hypoxic exposure, leads wide variety of neurological syndromes, including ischemic and hemorrhagic stroke, anterior posterior territory transient attacks, “soft signs,” seizures, headache, coma, visual loss, altered mental status. There is peak for stroke in childhood, typically associated with stenosis or occlusion the distal internal carotid proximal middle cerebral arteries diagnosable using magnetic resonance angiography (MRA) transcranial Doppler ultrasound (TCD). For age early adulthood, when aneurysms are common. Silent infarction detected imaging up 50% by age. Cognitive difficulties, characteristically affecting attention, executive function, memory, arithmetic, processing speed, also Indefinite transfusion standard care prevention. primary prevention those TCD velocities >200 cm/s, recommended year; switching hydroxyurea thereafter noninferior if MRA normal. l -Glutamine FDA-approved pain but data CNS endpoints lacking. New management strategies include voxelator, decreases polymerization, monoclonal antibodies against inflammatory targets, genome editing increase HbF gene therapy lentiviral vector, as well transplantation; trials currently progress.