Sideroblastic anaemia

Question 1

Sideroblastic anaemia?

Answer 1

• Sideroblastic anaemia is a condition where red cells fail to completely form haem, whose biosynthesis takes place partly in the mitochondrion.
• This leads to deposits of iron in the mitochondria that form a ring around the nucleus called a ring sideroblast. It may be congenital or acquired

Congenital cause:

• delta-aminolevulinate synthase-2 deficiency

Question 2

Acquired causes?

Answer 2

• myelodysplasia
• alcohol
• lead
• anti-TB medications

Question 3

Investigations?

Answer 3

• hypochromic microcytic anaemia (more so in congenital)
• bone marrow: sideroblasts and increased iron stores

Question 4

Management?

Answer 4

• supportive
• treat any underlying cause
• pyridoxine may help

Question 5

Answer 5

Question 6

Answer 6