Sideroblastic anaemia

Key Information

Appropriate Tests

 

Full blood count, Blood film (dimorphic blood film with hypochromic red cells), White cell count differential and Platelet count.

Ferritin and Transferrin saturation.

Bone marrow biopsy: aspiration and trephine biopsy (with special stain for iron) to demonstrate 'ring' sideroblasts, and define any underlying haematological disorder.

Congenital sideroblastic anaemia

X-linked due to germline mutations in the erythroid-specific ALA synthase (ALAS2)

Autosomal recessive due to SLC25A38 mutation

May be non-syndromic or associated with neuromuscular and metabolic phenotypes.

Full blood count, Blood film (shows dimorphic blood film with many hypochromic and microcytic red cells)

Reticulocyte count.

Bone marrow aspirate, trephine and iron stain demonstrating ring sideroblasts.

Acquired, especially

 

Drug/toxin induced

 

  • Lead poisoning
  • Alcoholism
  • Isoniazid
  • Chloramphenicol

 

Acquired clonal sideroblastic anaemia

(Myelodysplastic syndromes)

Refractory anaemia with ring sideroblasts

Full blood count, Blood film

Bone marrow aspirate: often erythroid hyperplasia, 15% or more ring sideroblasts in the bone marrow and less than 5% blasts. 

Refractory anaemia with ring sideroblasts and thrombocytosis

Full blood count: thrombocytosis

Bone marrow aspirate: 15% or more ring sideroblasts in the bone marrow and less than 5% blasts.

JAK2 mutation