thalassemia

inherited microcytic anaemia, >1% across Mediterranean/Middle East/SEA/N Africa/India against malaria
Etiology Alpha thalassaemia: deletion or loss of function of alpha genes
- loss of all 4 = hydrops fetalis = fatal
- haemoglobin H = loss/dysfunction of 3 a-genes

Beta thalassaemia: mutation in beta globin gene → ↓ synthesis of beta globin
Epidemiology
Clinical presentation anaemia, hepatosplenomegaly, failure to thrive, mild jaundice, features of iron overload, "recurrent infections" due to Fe overload?
Pathogenesis Ineffective erythropoiesis, extramedullary haematopoiesis
Diagnostic investigations FBC: microcytic anaemia, ↑ HbA2
Blood film: microcytosis, tear drop cells, target cells, nucleated red cells
Management

classic lab findings

  • microcytic anaemia
  • blood film: hypochromic, microcytic cells, target cells, erythroblast, myelocytes
  • bone marrow: hypercellular, erythroid hyperplasia

#haematology