Sideroblastic Anaemia

•    Definition: Defective iron incorporation into haem → ring sideroblasts 

                                    (iron-loaded mitochondria visible on Perl’s stain)

•    Bone marrow: shows ring sideroblasts around nucleus

Causes:

•    Congenital: rare (e.g. ALAS2 mutation)

•    Acquired:

o    Alcohol

o    Lead poisoning (basophilic stippling)

o    Vitamin B6 (pyridoxine) deficiency

o    Isoniazid

o    Myelodysplastic syndrome (MDS)

Investigations:

•    ↑ Serum iron

•    ↑ Ferritin

•    Ring sideroblasts on marrow biopsy

Management:

•    Remove offending agent (e.g. alcohol, drug)

•    Pyridoxine (vitamin B6) supplementation

•    If MDS-related: consider supportive care ± erythropoietin