Sideroblastic anaemia is a rare type of anaemia that is characterised by the presence of ringed sideroblasts in the bone marrow. It affects both adults and children, but is more common in adults.

Aetiology

• The condition is caused by a deficiency of an enzyme called ALAS2, which is involved in the production of haemoglobin.
• Can be inherited as an x-linked disease (most commonly) or in an autosomal recessive form
• Autosomal recessive form: A structural defect in δ-ALA synthase, the pyridoxine-dependent enzyme responsible for the first step in haem synthesis
• Acquired causes include myeloproliferative disorders, myeloid leukaemia, drugs (e.g. isoniazid), alcohol misuse and lead toxicity
• It can also occur in other disorders such as rheumatoid arthritis, carcinomas and megaloblastic and haemolytic anaemias.
• Primary acquired sideroblastic anaemia is one of the myelodysplastic syndromes and is responsible for the vast majority of cases of sideroblas- tic anaemia in adults.

PC

• fatigue
• pale skin
• weakness
• shortness of breath
• dizziness
• headaches
• enlarged spleen