Sickle cell disease: a complete guide
Sickle cell disease is an inherited hemoglobin disorder. A genetic variant can make red blood cells rigid and sickle-shaped, especially when oxygen availability falls.
These cells break down early and have difficulty moving through small blood vessels, causing chronic anemia, episodes of blocked blood flow and progressive organ damage.
Symptoms and complications
Manifestations include anemia, fatigue and mild jaundice. Pain crises may affect bones, chest or abdomen and can be associated with dehydration, low oxygen, infection or high altitude, although they may occur without an obvious trigger.
Acute chest syndrome is a serious complication causing chest pain, fever, cough and breathing difficulty and requires urgent care. The disease also increases the risk of infection, stroke and kidney, lung or eye damage.
Inheritance, screening and diagnosis
Diagnosis can begin through newborn screening using hemoglobin electrophoresis or high-performance liquid chromatography (HPLC), which identify the types of hemoglobin in the blood.
Two sickle-cell genes, one from each parent, are required to develop the disease. A person with one has sickle-cell trait and can pass the variant to children. Genetic counseling helps families understand their risk.
Treatment and daily care
Care includes good hydration, complete vaccination, infection prevention and a medical pain-management plan. Treatment must be individualized by age, complications and disease type.
Hematopoietic stem-cell transplantation can cure some patients but is not a universal first-line option; it requires a compatible donor and careful risk-benefit assessment. Disease-modifying treatments may also be considered by the hematology team.
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This article provides general educational information and does not replace an individual medical assessment.