HEMATOLOGY
Etiology:
• β-globin gene mutation → ↓/absent β-chain
• Autosomal recessive
Pathogenesis:
Unpaired α-chains → ineffective erythropoiesis + hemolysis
Clinical Features:
• Severe anemia in infancy (transfusion- dependent)
• Skeletal deformities (“crew-cut” skull, chipmunk facies)
• Hepatosplenomegaly, jaundice, growth delay
• Iron overload → cardiac failure, endocrine damage
Lab Findings:
↓ Hb, ↓ MCV
Peripheral smear: target cells, nucleated RBCs
↑ HbF, ↑ HbA₂, ↓ HbA (electrophoresis)
Treatment:
Regular transfusions + iron chelation
Bone marrow transplant