HbSMutation
The HbS mutation is a point mutation in the beta-globin gene (HBB) on chromosome 11, causing a Glu6Val substitution in the beta chain. This yields hemoglobin S (HbS), which polymerizes when deoxygenated and distorts red blood cells.
Inheritance is autosomal recessive. Homozygous HbSS results in sickle cell disease; heterozygous HbAS individuals are typically
Pathophysiology involves deoxygenated HbS polymerizing into fibers, distorting red cells, causing hemolysis and vaso-occlusion that leads
Clinical features of sickle cell disease include recurrent pain crises, chronic anemia, jaundice, splenic sequestration, acute
Diagnosis relies on newborn screening with hemoglobin electrophoresis or high-performance liquid chromatography; DNA testing can confirm
Management focuses on prevention and symptom relief, including hydroxyurea to increase fetal hemoglobin, transfusions, vaccination, pain