FRCPath Haem Part 1 EMQs-Gen Haem 31 and 32

Theme: Iron Overload

Options

A. Start subcutaneous desferrioxamine (DFO)

B. Start deferasirox (DFX)

C. Start deferiprone (DFP)

D. Add deferiprone to desferrioxamine

E. Combination: deferasirox + desferrioxamine

F. Combination: deferiprone + deferasirox

G. Continue current therapy and monitor

H. Emergency IV continuous desferrioxamine infusion

I. Venesection

J. Reduce dose / avoid deferasirox due to renal impairment

K. Start iron chelation (indication met)

L. Intensify therapy due to cardiac iron overload

Scenarios

1

A 7-year-old boy with transfusion-dependent β-thalassaemia major has been receiving regular 3–4 weekly transfusions since infancy. He has now received approximately 14 transfusions. His serum ferritin has risen progressively over the past 6 months and is now 1150 μg/L on two consecutive measurements. MRI liver iron concentration (LIC) is 4 mg/g dry weight. His parents express concern regarding adherence to prolonged subcutaneous infusions and strongly prefer an oral regimen. Answer:

2

A 4-year-old girl with β-thalassaemia major is reviewed in clinic. She has received regular transfusions since diagnosis at 9 months of age. Her ferritin is now 1400 μg/L. The team discusses starting subcutaneous desferrioxamine, but the family lives far from the hospital, has poor social support, and there are concerns about adherence to infusion-based therapy. No organ dysfunction is present. Answer:

3

A 26-year-old woman with non-transfusion-dependent thalassaemia (NTDT) is reviewed for fatigue. She has never received regular transfusions. Her ferritin is 870 μg/L, and MRI shows LIC of 6.2 mg/g dry weight. Cardiac T2* is normal. Liver function tests are within normal limits. Answer:

4

A 32-year-old man with sickle cell disease is on a chronic top-up transfusion programme for secondary stroke prevention. He has been transfused regularly for 5 years. His ferritin is 1900 μg/L, and LIC is 8 mg/g dry weight. Cardiac T2* is 28 ms. Renal and liver function are normal. Answer:

5

A 21-year-old woman with transfusion-dependent thalassaemia has been on deferasirox for 18 months at an adequate dose with excellent compliance. Despite this, her ferritin remains persistently elevated at 2600 μg/L, and MRI shows LIC of 9.5 mg/g dry weight. Cardiac T2* remains normal. There is no evidence of drug toxicity. Answer:

6

A 23-year-old man with β-thalassaemia major has been on deferasirox for several years with good adherence. His recent MRI shows cardiac T2* of 16 ms (previously 24 ms), while LVEF remains within normal limits. LIC is 7 mg/g dry weight. He is asymptomatic. Answer:

7

A 29-year-old woman with transfusion-dependent thalassaemia presents with progressive dyspnoea, orthopnoea, and reduced exercise tolerance over several weeks. Echocardiography shows LVEF of 48%. Cardiac MRI reveals T2* of 6 ms. She has been inconsistently compliant with oral chelation therapy in the past. Answer:

8

A 36-year-old man with TDT has been on deferasirox for iron overload. Over recent months, his creatinine has progressively increased, and his creatinine clearance is now 52 mL/min. Ferritin remains elevated at 1800 μg/L. There is no other identifiable cause for renal impairment. Answer:

9

A 42-year-old man with congenital sideroblastic anaemia (non-transfusion-dependent) is reviewed. His haemoglobin is stable at 138 g/L. Ferritin is 620 μg/L, and LIC is 5.5 mg/g dry weight. He has no history of transfusions and no organ dysfunction. Answer:

10

A 16-year-old adolescent with transfusion-dependent thalassaemia is on deferiprone monotherapy at 75 mg/kg/day in three divided doses. He reports good compliance. After 9 months of therapy, his ferritin remains elevated at 2100 μg/L with minimal downward trend. Neutrophil counts have remained stable. Answer: