sideroblastic anaemia

Question 1

definition

Answer 1

Failure of RBCs to form haem due to inadequate biosynthesis in the mitochondira - characterised by presence of abnormal ringed sideroblasts (iron deposits). Is enough iron but can’t put into Hb.

Question 2

aetiology

Answer 2

congenital or acquired
Vitamin B6 deficiency causes this

Question 3

pathology

Answer 3

It results in the inclusion of a perinuclear ring of coarse iron-containing granules (‘ring-sideroblasts’) within erythrocyte progenitors

Question 4

investigations

Answer 4

FBC - hypochromic microcytic anaemia (esp. congenital)
Iron Studies - high ferritin, iron and transferrin solutions
Blood Film - basophilic stippling of RBCs
Bone Marrow - prussian blue staining showing ringed sideroblasts

Looks like iron deficiency but raised transferrin solution

Question 5

management

Answer 5

Supportive
Treat underlying cause (if present)
Pyridoxine - may help