sideroblastic anaemia

Question 1

what is sideroblastic anaemia characterised by

Answer 1

smaller than normal red blood cells (all microcytic have this)

impaired haemoglobin production

Question 2

pathophysiology of sideroblastic anaemia

Answer 2

1. bone marrow is unable to
   produce healthy red blood cells.
2. There is defective haemoglobin
   synthesis in the mitochondria
3. leads to an accumulation of
   iron in the mitochondria
4. results in the bone marrow
   producing ringed sideroblasts
   (which are basically just red blood
   cells with iron-loaded
   mitochondria) instead of the usual
   healthy kind of red blood cell.

Question 3

what causes sideroblastic anaemia

Answer 3

1. X linked (recessive or dominant) ALA Synthase deficiency - most common
2. due to drug toxicity, chronic
   alcoholism or myelodysplastic
   syndromes

Question 4

symptoms of sideroblastic anaemia

Answer 4

general anaemia symptoms
* Fatigue
* Headache
* Dizziness
* Dyspnoea
* Chest Pain

Question 5

signs of sideroblastic anaemia

Answer 5

general anaemia signs
* Tachycardia
* Hypotension
* Conjunctival pallor
* Intermittent claudication

Question 6

3 investigations for sideroblastic anaemia

Answer 6

1. FBC + BLOOD FILM
2. Iron studies
3. bone marrow biopsy

Question 7

what does FBC + blood film for sideroblastic anaemia show

Answer 7

• Microcytic
• low MCV
• ringed sideroblasts
• basophilic stippling (increased
  basophilic granules)

Question 8

what do iron studies for sideroblastic anaemia show

Answer 8

• High Serum Fe
• High Ferritin
• High Transferrin Saturation
• Low Total Iron Binding
  Capacity (TIBC).

Question 9

what does bone marrow biopsy of sideroblastic anaemia show

Answer 9

Increased iron deposition and
ringed sideroblasts.

Question 10

5 treatment options for sideroblastic anaemia

Answer 10

1. avoidance of triggers
2. chelation therapy
3. Vitamin B6 (pyridoxine)
   supplementation:
4. blood transfusions
5. stem cell transplant

Question 11

what are triggers of sideroblastic anaemia

Answer 11

alcohol or other toxins

Question 12

what does chelation therapy do

Answer 12

reduce iron overload

Question 13

which patients are Vitamin B6 (pyridoxine) supplementation especially beneficial in

Answer 13

those with X-linked sideroblastic anaemia.

Question 14

when are blood transfusions needed for sideroblastic anaemia

Answer 14

May be necessary in severe cases to manage acute symptoms of anaemia.

Question 15

when is a stem cell transplant needed for sideroblastic anaemia

Answer 15

This may be an option for some patients with severe, refractory disease