Features

• is rarely inherited in an X-linked manner
  
• primary sideroblastic anaemia:
  • occurs in older adults
  • characterised by progressive anaemia and hepatosplenomegaly
  • neutropenia and thrombocytopenia may develop
  • leucocyte alkaline phosphatase activity is generally low
    
    
• blood film:
  • dimorphic picture with normal and hypochromic cells
  • in congenital cases there may be microcytosis
  • in acquired cases there may be macrocytosis
  • blasts will be present in cases of acute myeloid leukaemia
  • in lead poisoning there will be punctate basophilia in the red cells
    
    
• bone marrow:
  • ring sideroblasts in the bone marrow
  • erythroid hyperplasia
    
    
• iron studies:
  • raised serum ferritin
  • lowered TIBC

Reference

1. Rodriguez-Sevilla JJ, Calvo X, Arenillas L. Causes and Pathophysiology of Acquired Sideroblastic Anemia. Genes (Basel). 2022 Aug 30;13(9)