Sigdcelleanemi

Sigdcelleanemi is a hereditary red blood cell disorder characterized by the production of abnormal hemoglobin that can cause red blood cells to assume a crescent or sickled shape under low oxygen conditions. In many medical references, the term is used as an alternate name for sickle cell disease, reflecting its shared core features, though some regional glossaries distinguish a specific variant. The condition is typically inherited in an autosomal recessive pattern.

The disease arises from mutations in the beta-globin gene (HBB) on chromosome 11, most commonly a substitution that produces hemoglobin S (HbS). When two abnormal alleles are present, hemoglobin S can polymerize during hypoxia, leading to rigid, misshapen red blood cells that obstruct small vessels and undergo premature destruction. Heterozygous carriers (HbAS) usually have no or mild symptoms, while compound heterozygosity with other beta-globin variants can modify severity.

Clinical features include recurrent pain episodes (vaso-occlusive crises), chronic hemolytic anemia with fatigue and pallor, jaundice, and increased susceptibility to infections. Chronic organ complications may affect the spleen, liver, kidneys, bones, and lungs. Newborns may present with dactylitis and other signs of early disease.

Diagnosis relies on blood tests: complete blood count showing anemia, peripheral smear with sickled cells, and hemoglobin electrophoresis or high-performance liquid chromatography demonstrating HbS. Genetic testing confirms the HBB mutation. Newborn screening is commonly used for early detection.

Management focuses on reducing symptoms and preventing complications. Pain control, hydration, and infection prevention are essential. Treatments may include hydroxyurea to raise fetal hemoglobin, regular transfusions in certain scenarios, and vaccination with penicillin prophylaxis in children. In some cases, hematopoietic stem cell transplantation or emerging gene therapies offer potential curative options. Prognosis varies with disease severity and access to comprehensive care.