Sicklecellssjukdom

Sicklecellssjukdom is an inherited blood disorder caused by a mutation in the beta-globin gene (HBB) that produces hemoglobin S (HbS). When red blood cells are exposed to low oxygen, HbS can polymerize, causing the cells to become rigid and crescent-shaped. These sickled cells are prone to hemolysis and can obstruct small blood vessels, leading to pain, organ damage, and complications over time. The condition is autosomal recessive; individuals with two mutant HBB alleles have the disease, while carriers have one allele and usually no symptoms.

Common features include recurrent painful crises (vaso-occlusive episodes), acute chest syndrome, stroke, priapism, leg ulcers, splenic sequestration, and kidney problems. Chronic hemolysis can cause fatigue, jaundice, and impaired growth in children. Disease severity varies widely among individuals.

Diagnosis is typically guided by newborn screening, with confirmation through hemoglobin electrophoresis, high-performance liquid chromatography, or DNA testing. Genetic counseling is recommended for families.

Management focuses on prevention and treatment of complications. Key measures include routine vaccinations and penicillin prophylaxis in early childhood, adequate hydration, and effective pain management during crises. Hydroxyurea can reduce the frequency of painful episodes and acute chest syndrome. Some patients require chronic blood transfusions, especially for specific complications. Curative options, such as bone marrow or stem cell transplantation, are available for selected patients, and gene therapies are under investigation.

Prognosis depends on access to comprehensive care and prevention of complications. In many settings, life expectancy has improved with modern management, though significant burden remains in areas with limited healthcare resources. Sicklecellssjukdom is most prevalent in populations of African descent and in regions with historical high carrier frequencies.